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Primary immunodeficiency

Index Primary immunodeficiency

Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. [1]

186 relations: Activated PI3K delta syndrome, Adenosine deaminase, Albinism, Amyloid, Angioedema, Antibiotic, Antibody, Antiviral drug, Artemis (protein), Ataxia-telangiectasia, Autoimmune disease, Autoimmune lymphoproliferative syndrome, Autoimmune polyendocrine syndrome, B cell, B-cell activating factor, B-cell linker, BCL10, Beta-actin, Blau syndrome, Bloom syndrome, Bruton's tyrosine kinase, C8 complex, Cancer, CARD11, Cartilage–hair hypoplasia, Caspase 10, Caspase 8, CD154, CD19, CD25 deficiency, CD278, CD3 (immunology), CD4, CD40 (protein), CD79, CD8, CD80, Cell-mediated immunity, Cernunnos deficiency, Chédiak–Higashi syndrome, Chemotaxis, Child, Chronic granulomatous disease, Chronic mucocutaneous candidiasis, Cold urticaria, Common variable immunodeficiency, Complement component 1q, Complement component 1r, Complement component 2, Complement component 3, ..., Complement component 4, Complement component 5, Complement component 6, Complement component 7, Complement component 9, Complement deficiency, Complement factor I, Complement system, Complete blood count, Cyclic neutropenia, Cytochrome b-245, alpha polypeptide, Cytokine, Deficiency of the interleukin-1–receptor antagonist, Developmental disability, DiGeorge syndrome, DNA ligase, DNA repair, DOCK8 deficiency, Dyskeratosis congenita, Epidermodysplasia verruciformis, Factor D, Factor H, Familial Mediterranean fever, Fas ligand, Fas receptor, Gamma delta T cell, Genetic disorder, GFI1, Glycogen storage disease type I, Graft-versus-host disease, Granulocyte, Griscelli syndrome, Heart, Hematopoietic stem cell transplantation, Hemolytic-uremic syndrome, Hemophagocytic lymphohistiocytosis, Hepatic veno-occlusive disease, Hermansky–Pudlak syndrome, Herpesviral encephalitis, HLA-DR, Hoyeraal-Hreidarsson syndrome, Humoral immune deficiency, Hyper IgM syndrome, Hyper-IgD syndrome, Hyperimmunoglobulin E syndrome, Hypohidrotic ectodermal dysplasia, IκBα, IKBKG, IL2RA, Immune system, Immunodeficiency, Immunoglobulin A, Immunoglobulin G, Immunoglobulin heavy chain, Immunoglobulin light chain, Immunoglobulin M, Immunoglobulin therapy, Immunosuppression, Infection, Innate immune system, Interferon-gamma receptor, Interleukin 12, Interleukin 23 subunit alpha, Interleukin 7, Interleukin-12 subunit beta, International Union of Immunological Societies, IPEX syndrome, IRAK4, Kostmann syndrome, Leukocyte adhesion deficiency, Lymphocyte, Lymphoma, Macrophage, Majeed syndrome, MALT1, Mannan-binding lectin, MASP2 (protein), Membranoproliferative glomerulonephritis, MHC class I, MHC class II, Mitogen, Monocyte, MRE11A, Muckle–Wells syndrome, MYD88, Myelodysplastic syndrome, NALP3, Natural killer cell, Neonatal-onset multisystem inflammatory disease, Neutrophil cytosolic factor 1, Neutrophil cytosolic factor 2, Neutrophil elastase, Neutrophil immunodeficiency syndrome, Neutrophil-specific granule deficiency, Nijmegen breakage syndrome, Nitro blue tetrazolium chloride, Normality (behavior), Ogden Bruton, Omenn syndrome, Osteochondrodysplasia, PAPA syndrome, Papillon–Lefèvre syndrome, Paroxysmal nocturnal hemoglobinuria, Perforin, Periodic fever syndrome, Phagocyte, Phagocytosis, Plasma cell, Properdin, PTPRC, Pulmonary alveolar proteinosis, Purine nucleoside phosphorylase deficiency, Pus, RAC2, Recombination-activating gene, Reticular dysgenesis, Selective immunoglobulin A deficiency, Severe combined immunodeficiency, Shwachman–Diamond syndrome, Skin, STAT1, STAT5B, Syntaxin, T cell, Thymoma with immunodeficiency, Thymus, TNF receptor associated periodic syndrome, TNF receptor superfamily, Transient hypogammaglobulinemia of infancy, Trypanosomiasis, UNC13D, WHIM syndrome, Wiskott–Aldrich syndrome, X-linked agammaglobulinemia, X-linked lymphoproliferative disease, ZAP70. Expand index (136 more) »

Activated PI3K delta syndrome

Activated PI3K delta syndrome is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene.

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Adenosine deaminase

Adenosine deaminase (also known as adenosine aminohydrolase, or ADA) is an enzyme involved in purine metabolism.

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Albinism

Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.

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Amyloid

Amyloids are aggregates of proteins that become folded into a shape that allows many copies of that protein to stick together forming fibrils.

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Angioedema

Angioedema is an area of swelling of the lower layer of skin and tissue just under the skin or mucous membranes.

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Antibiotic

An antibiotic (from ancient Greek αντιβιοτικά, antibiotiká), also called an antibacterial, is a type of antimicrobial drug used in the treatment and prevention of bacterial infections.

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Antibody

An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein produced mainly by plasma cells that is used by the immune system to neutralize pathogens such as pathogenic bacteria and viruses.

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Antiviral drug

Antiviral drugs are a class of medication used specifically for treating viral infections rather than bacterial ones.

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Artemis (protein)

Artemis is a protein that in humans is encoded by the DCLRE1C (DNA cross-link repair 1C) gene.

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Ataxia-telangiectasia

Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability.

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Autoimmune disease

An autoimmune disease is a condition arising from an abnormal immune response to a normal body part.

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Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome,Straus SE, Jaffe ES, Puck JM et al.

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Autoimmune polyendocrine syndrome

Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes (APSs), polyglandular autoimmune syndromes (PGASs), or polyendocrine autoimmune syndromes, are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected.There are three types of APS or (in terms that mean the same thing) three APSs, and there are a number of other diseases which have endocrine autoimmunity.

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B cell

B cells, also known as B lymphocytes, are a type of white blood cell of the lymphocyte subtype.

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B-cell activating factor

B-cell activating factor (BAFF) also known as tumor necrosis factor ligand superfamily member 13B is a protein that in humans is encoded by the TNFSF13B gene.

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B-cell linker

The B-cell linker protein is encoded by the BLNK gene and is an adaptor protein also known as SLP-65, BASH, and BCA.

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BCL10

B-cell lymphoma/leukemia 10 is a protein that in humans is encoded by the BCL10 gene.

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Beta-actin

Beta-actin (human gene and protein symbol ACTB/ACTB) is one of six different actin isoforms which have been identified in humans.

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Blau syndrome

Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints.

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Bloom syndrome

Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer and genomic instability.

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Bruton's tyrosine kinase

Bruton's tyrosine kinase (abbreviated Btk or BTK) also known as tyrosine-protein kinase BTK is an enzyme that in humans is encoded by the BTK gene.

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C8 complex

Complement component 8 is a protein involved in the complement system.

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Cancer

Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.

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CARD11

Caspase recruitment domain-containing protein 11 also known as CARD-containing MAGUK protein 1 (Carma 1) is a protein that in humans is encoded by the CARD11 gene.

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Cartilage–hair hypoplasia

Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia,James, William; Berger, Timothy; Elston, Dirk (2005).

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Caspase 10

Caspase-10 is an enzyme that, in humans, is encoded by the CASP10 gene.

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Caspase 8

Caspase-8 is a caspase protein, encoded by the CASP8 gene.

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CD154

CD154, also called CD40 ligand or CD40L, is a protein that is primarily expressed on activated T cells and is a member of the TNF superfamily of molecules.

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CD19

B-lymphocyte antigen CD19, also known as CD19 molecule ('''C'''luster of '''D'''ifferentiation 19), B-Lymphocyte Surface Antigen B4, T-Cell Surface Antigen Leu-12 and CVID3 is a transmembrane protein that in humans is encoded by the gene CD19.

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CD25 deficiency

CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha (CD25) (IL2RA) gene.

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CD278

Inducible T-cell costimulator is an immune checkpoint protein that in humans is encoded by the ICOS gene.

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CD3 (immunology)

In immunology, the CD3 (cluster of differentiation 3) T cell co-receptor helps to activate both the cytotoxic T cell (CD8+ naive T cells) and also T helper cells (CD4+ naive T cells).

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CD4

In molecular biology, CD4 (cluster of differentiation 4) is a glycoprotein found on the surface of immune cells such as T helper cells, monocytes, macrophages, and dendritic cells.

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CD40 (protein)

Cluster of differentiation 40, CD40 is a costimulatory protein found on antigen presenting cells and is required for their activation.

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CD79

CD79 ('''C'''luster of '''D'''ifferentiation 79) is a transmembrane protein that forms a complex with the B-cell receptor (BCR) and generates a signal following recognition of antigen by the BCR.

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CD8

CD8 (cluster of differentiation 8) is a transmembrane glycoprotein that serves as a co-receptor for the T cell receptor (TCR).

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CD80

Cluster of differentiation 80 (also CD80 and B7-1) is a protein found on dendritic cells, activated B cells and monocytes that provides a costimulatory signal necessary for T cell activation and survival.

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Cell-mediated immunity

Cell-mediated immunity is an immune response that does not involve antibodies, but rather involves the activation of phagocytes, antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response to an antigen.

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Cernunnos deficiency

Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner Management for this condition is antiviral prophylaxis and antibiotic treatment.

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Chédiak–Higashi syndrome

Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.

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Chemotaxis

Chemotaxis (from chemo- + taxis) is the movement of an organism in response to a chemical stimulus.

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Child

Biologically, a child (plural: children) is a human being between the stages of birth and puberty.

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Chronic granulomatous disease

Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens.

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Chronic mucocutaneous candidiasis

Chronic mucocutaneous candidiasis is an immune disorder of T cells, it is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails.

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Cold urticaria

Cold urticaria (essentially meaning "cold hives") is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus.

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Common variable immunodeficiency

Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM and IgA.

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Complement component 1q

The complement component 1q (or simply C1q) is a protein complex involved in the complement system, which is part of the innate immune system.

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Complement component 1r

Complement C1r subcomponent (activated complement C1r, C overbar 1r esterase, C1r) is a protein involved in the complement system of the innate immune system.

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Complement component 2

Complement C2 is a protein that in humans is encoded by the C2 gene.

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Complement component 3

Complement component 3, often simply called C3, is a protein of the immune system.

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Complement component 4

Complement component 4 (C4), in humans, is a protein involved in the intricate complement system, originating from the human leukocyte antigen (HLA) system.

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Complement component 5

Complement component 5 is a protein that in humans is encoded by the C5 gene.

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Complement component 6

Complement component 6 is a protein that in humans is encoded by the C6 gene.

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Complement component 7

Complement component 7 is a protein involved in the complement system of the innate immune system.

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Complement component 9

Complement component 9 (C9) is a protein involved in the complement system, which is part of the innate immune system.

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Complement deficiency

Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins.

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Complement factor I

Complement factor I, also known as C3b/C4b inactivator, is a protein that in humans is encoded by the CFI gene.

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Complement system

The complement system is a part of the immune system that enhances (complements) the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism, promotes inflammation, and attacks the pathogen's cell membrane.

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Complete blood count

A complete blood count (CBC), also known as a complete blood cell count, full blood count (FBC), or full blood exam (FBE), is a blood panel requested by a doctor or other medical professional that gives information about the cells in a patient's blood, such as the cell count for each cell type and the concentrations of various proteins and minerals.

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Cyclic neutropenia

Cyclic neutropenia (or cyclical neutropenia) is a form of neutropenia that tends to occur every three weeks and lasting three to six days at a time due to changing rates of cell production by the bone marrow.

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Cytochrome b-245, alpha polypeptide

Cytochrome b-245 light chain is a protein that in humans is encoded by the CYBA gene involved in superoxide production and phagocytosis.

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Cytokine

Cytokines are a broad and loose category of small proteins (~5–20 kDa) that are important in cell signaling.

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Deficiency of the interleukin-1–receptor antagonist

Deficiency of the interleukin-1–receptor antagonist (DIRA) is a autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.

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Developmental disability

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood.

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DiGeorge syndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.

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DNA ligase

DNA ligase is a specific type of enzyme, a ligase, that facilitates the joining of DNA strands together by catalyzing the formation of a phosphodiester bond.

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DNA repair

DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.

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DOCK8 deficiency

DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses.

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Dyskeratosis congenita

Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome,James, William; Berger, Timothy; Elston, Dirk (2005).

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Epidermodysplasia verruciformis

Epidermodysplasia verruciformis (EV), also known as treeman syndrome, is an extremely rare autosomal recessive hereditary skin disorder associated with a high risk of skin cancer.

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Factor D

Factor D (C3 proactivator convertase, properdin factor D esterase, factor D (complement), complement factor D, CFD, adipsin) a protein which in humans is encoded by the CFD gene.

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Factor H

Factor H is a member of the regulators of complement activation family and is a complement control protein.

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Familial Mediterranean fever

Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder.

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Fas ligand

Fas ligand (FasL or CD95L) is a type-II transmembrane protein that belongs to the tumor necrosis factor (TNF) family.

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Fas receptor

The first apoptosis signal receptor (Fas or FasR), also known as apoptosis antigen 1 (APO-1 or APT), cluster of differentiation 95 (CD95) or tumor necrosis factor receptor superfamily member 6 (TNFRSF6) is a protein that in humans is encoded by the FAS gene.

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Gamma delta T cell

Gamma delta T cells (γδ T cells) are T cells that have a distinctive T-cell receptor (TCR) on their surface.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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GFI1

Zinc finger protein Gfi-1 is a protein that in humans is encoded by the GFI1 gene.

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Glycogen storage disease type I

Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen storage diseases.

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Graft-versus-host disease

Graft-versus-host disease (GvHD) is a medical complication following the receipt of transplanted tissue from a genetically different person.

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Granulocyte

Granulocytes are a category of white blood cells characterized by the presence of granules in their cytoplasm.

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Griscelli syndrome

Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood.

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Heart

The heart is a muscular organ in most animals, which pumps blood through the blood vessels of the circulatory system.

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Hematopoietic stem cell transplantation

Hematopoietic stem cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood.

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Hemolytic-uremic syndrome

Hemolytic-uremic syndrome (HUS) is a disease characterized by a triad of hemolytic anemia (anemia caused by destruction of red blood cells), acute kidney failure (uremia), and a low platelet count (thrombocytopenia).

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Hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults.

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Hepatic veno-occlusive disease

Hepatic veno-occlusive disease or veno-occlusive disease with immunodeficiency (VODI) is a condition in which some of the small veins in the liver are obstructed.

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Hermansky–Pudlak syndrome

Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).

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Herpesviral encephalitis

Herpesviral encephalitis is encephalitis due to herpes simplex virus.

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HLA-DR

HLA-DR is an MHC class II cell surface receptor encoded by the human leukocyte antigen complex on chromosome 6 region 6p21.31.

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Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita.

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Humoral immune deficiency

Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to immunodeficiency.

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Hyper IgM syndrome

Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.

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Hyper-IgD syndrome

Hyperimmunoglobulinemia D with recurrent fever (HIDS) is a periodic fever syndrome originally described in 1984 by the internist Jos van der Meer, then at Leiden University Medical Centre.

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Hyperimmunoglobulin E syndrome

Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders.

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Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (also known as "anhidrotic ectodermal dysplasia", and "Christ-Siemens-Touraine syndrome"James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders..) is one of about 150 types of ectodermal dysplasia in humans.

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IκBα

IκBα (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha) is one member of a family of cellular proteins that function to inhibit the NF-κB transcription factor.

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IKBKG

NF-kappa-B essential modulator (NEMO) also known as inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK-γ) is a protein that in humans is encoded by the IKBKG gene.

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IL2RA

Interleukin-2 receptor alpha chain (also called CD25) is a protein that in humans is encoded by the IL2RA gene.

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Immune system

The immune system is a host defense system comprising many biological structures and processes within an organism that protects against disease.

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Immunodeficiency

Immunodeficiency (or immune deficiency) is a state in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent.

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Immunoglobulin A

Immunoglobulin A (IgA, also referred to as sIgA in its secretory form) is an antibody that plays a crucial role in the immune function of mucous membranes.

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Immunoglobulin G

Immunoglobulin G (IgG) is a type of antibody.

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Immunoglobulin heavy chain

The immunoglobulin heavy chain (IgH) is the large polypeptide subunit of an antibody (immunoglobulin).

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Immunoglobulin light chain

The immunoglobulin light chain is the small polypeptide subunit of an antibody (immunoglobulin).

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Immunoglobulin M

Immunoglobulin M (IgM) is one of several forms of antibody that are produced by vertebrates.

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Immunoglobulin therapy

Immunoglobulin therapy, also known as normal human immunoglobulin (NHIG), is the use of a mixture of antibodies (immunoglobulins) to treat a number of health conditions.

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Immunosuppression

Immunosuppression is a reduction of the activation or efficacy of the immune system.

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Infection

Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.

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Innate immune system

The innate immune system, also known as the non-specific immune system or in-born immunity system, is an important subsystem of the overall immune system that comprises the cells and mechanisms involved in the defense of the host from infection by other organisms.

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Interferon-gamma receptor

The interferon-gamma receptor (IFNGR) is a receptor that binds interferon-γ, the sole member of interferon type II.

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Interleukin 12

Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages, neutrophils, and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation.

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Interleukin 23 subunit alpha

Interleukin-23 subunit alpha is a protein that in humans is encoded by the IL23A gene.

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Interleukin 7

Interleukin 7 (IL-7) is a protein that in humans is encoded by the IL7 gene.

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Interleukin-12 subunit beta

Subunit beta of interleukin 12 (also known as IL-12B, natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor p40, or interleukin-12 subunit p40) is a protein that in humans is encoded by the IL12B gene.

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International Union of Immunological Societies

The International Union of Immunological Societies (IUIS), a member of the International Council for Science, is an organization which serves as an umbrella organization for many national and regionally grouped immunological societies.

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IPEX syndrome

IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage.

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IRAK4

IRAK-4 (interleukin-1 receptor-associated kinase 4), in the IRAK family, is a protein kinase involved in signaling innate immune responses from Toll-like receptors.

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Kostmann syndrome

Kostmann syndrome is a group of diseases that affect myelopoiesis, causing a congenital form of neutropenia (severe congenital neutropenia), usually without other physical malformations.

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Leukocyte adhesion deficiency

Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections.

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Lymphocyte

A lymphocyte is one of the subtypes of white blood cell in a vertebrate's immune system.

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Lymphoma

Lymphoma is a group of blood cancers that develop from lymphocytes (a type of white blood cell).

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Macrophage

Macrophages (big eaters, from Greek μακρός (makrós).

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Majeed syndrome

Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis.

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MALT1

Mucosa-associated lymphoid tissue lymphoma translocation protein 1 is a protein that in humans is encoded by the MALT1 gene.

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Mannan-binding lectin

Mannose-binding lectin (MBL), also called mannose-binding protein or mannan-binding protein (MBP), is a lectin that is instrumental in innate immunity via the lectin pathway.

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MASP2 (protein)

Mannan-binding lectin serine protease 2 also known as mannose-binding protein-associated serine protease 2 (MASP-2) is an enzyme that in humans is encoded by the MASP2 gene.

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Membranoproliferative glomerulonephritis

Membranoproliferative glomerulonephritis ("MPGN"), also known as mesangiocapillary glomerulonephritis, is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane (GBM) thickening, activating complement and damaging the glomeruli.

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MHC class I

MHC class I molecules are one of two primary classes of major histocompatibility complex (MHC) molecules (the other being MHC class II) and are found on the cell surface of all nucleated cells in the bodies of jawed vertebrates.

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MHC class II

MHC class II molecules are a class of major histocompatibility complex (MHC) molecules normally found only on antigen-presenting cells such as dendritic cells, mononuclear phagocytes, some endothelial cells, thymic epithelial cells, and B cells.

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Mitogen

A mitogen is a chemical substance that encourages a cell to commence cell division, triggering mitosis.

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Monocyte

Monocytes are a type of leukocyte, or white blood cell.

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MRE11A

Double-strand break repair protein MRE11A is a protein that in humans is encoded by the MRE11A gene.

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Muckle–Wells syndrome

Muckle–Wells syndrome (MWS), also known as urticaria-deafness-amyloidosis syndrome (UDA), is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis.

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MYD88

Myeloid differentiation primary response 88 (MYD88) is a protein that, in humans, is encoded by the MYD88 gene.

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Myelodysplastic syndrome

Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells.

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NALP3

NACHT, LRR and PYD domains-containing protein 3 (NALP3), also known as cryopyrin, is a protein that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1.

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Natural killer cell

Natural killer cells or NK cells are a type of cytotoxic lymphocyte critical to the innate immune system.

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Neonatal-onset multisystem inflammatory disease

Neonatal-onset multisystem inflammatory disease (abbreviated NOMID, also known as chronic infantile neurologic cutaneous and articular syndrome,James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.. or CINCA) is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period.

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Neutrophil cytosolic factor 1

Neutrophil cytosol factor 1, also known as p47phox, is a protein that in humans is encoded by the NCF1 gene.

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Neutrophil cytosolic factor 2

Neutrophil cytosol factor 2 is a protein that in humans is encoded by the NCF2 gene.

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Neutrophil elastase

Neutrophil elastase (leukocyte elastase, ELANE, ELA2, elastase 2, neutrophil, elaszym, serine elastase, subtype human leukocyte elastase (HLE)) is a serine proteinase in the same family as chymotrypsin and has broad substrate specificity.

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Neutrophil immunodeficiency syndrome

Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2 gene.

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Neutrophil-specific granule deficiency

Neutrophil-specific granule deficiency (SGD, previously known as lactoferrin deficiency) is a rare congenital immunodeficiency characterized by an increased risk for pyogenic infections due to defective production of specific granules and gelatinase granules in patient neutrophils.

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Nijmegen breakage syndrome

Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant 1 (AT-V1) and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).

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Nitro blue tetrazolium chloride

Nitro blue tetrazolium is a chemical compound composed of two tetrazole moieties.

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Normality (behavior)

Normality is a behavior that can be normal for an individual (intrapersonal normality) when it is consistent with the most common behaviour for that person.

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Ogden Bruton

Ogden Carr Bruton (born 14 June 1908 in Mount Gilead, North Carolina; died 20 January 2003) was a pediatrician and chief of pediatrics at Walter Reed Army Hospital, where he organized the first pediatric residency at this hospital.

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Omenn syndrome

Omenn syndrome is an autosomal recessive severe combined immunodeficiency associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombination activating genes (RAG1 and RAG2), IL-7 Receptor α gene (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge anomaly (DiGeorge Syndrome; CHARGE).

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Osteochondrodysplasia

Osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro").

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PAPA syndrome

PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne.

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Papillon–Lefèvre syndrome

Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.

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Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's innate immune system.

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Perforin

Perforin-1 is a protein that in humans is encoded by the PRF1 gene and the Prf1 gene in mice.

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Periodic fever syndrome

Periodic fever syndromes (also known as autoinflammatory diseases or autoinflammatory syndromes) are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation.

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Phagocyte

Phagocytes are cells that protect the body by ingesting harmful foreign particles, bacteria, and dead or dying cells.

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Phagocytosis

In cell biology, phagocytosis is the process by which a cell—often a phagocyte or a protist—engulfs a solid particle to form an internal compartment known as a phagosome.

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Plasma cell

Plasma cells, also called plasma B cells, plasmocytes, plasmacytes, or effector B cells, are white blood cells that secrete large volumes of antibodies.

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Properdin

Properdin is the only known positive regulator of complement activation that stabilizes the alternative pathway convertases.

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PTPRC

Protein tyrosine phosphatase, receptor type, C also known as PTPRC is an enzyme that, in humans, is encoded by the PTPRC gene.

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Pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis (PAP) is a group of rare lung disorders characterized by abnormal accumulation of surfactant-derived lipoprotein compounds within the alveoli of the lung.

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Purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare autosomal recessive metabolic disorder which results in immunodeficiency.

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Pus

Pus is an exudate, typically white-yellow, yellow, or yellow-brown, formed at the site of inflammation during bacterial or fungal infection.

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RAC2

Rac2 (Ras-related C3 botulinum toxin substrate 2) is a small (~21 kDa) signaling G protein (to be specific, a GTPase), and is a member of the Rac subfamily of the family Rho family of GTPases.

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Recombination-activating gene

The recombination-activating genes (RAGs) encode enzymes that play an important role in the rearrangement and recombination of the genes of immunoglobulin and T cell receptor molecules, however there is no evidence to suggest the developing T cells can undergo receptor editing in the same way that B cells do.

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Reticular dysgenesis

Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in immunodeficiency.

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Selective immunoglobulin A deficiency

Selective immunoglobulin A (IgA) deficiency (SIgAD) is a genetic immunodeficiency, a type of hypogammaglobulinemia.

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Severe combined immunodeficiency

Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann–Riniker syndrome, severe mixed immunodeficiency syndrome, and thymic alymphoplasia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in heterogeneous clinical presentations.

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Shwachman–Diamond syndrome

Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature.

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Skin

Skin is the soft outer tissue covering vertebrates.

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STAT1

Signal transducer and activator of transcription 1 (STAT1) is a transcription factor which in humans is encoded by the STAT1 gene.

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STAT5B

Signal transducer and activator of transcription 5B is a protein that in humans is encoded by the STAT5B gene.

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Syntaxin

Syntaxins are a family of membrane integrated Q-SNARE proteins participating in exocytosis.

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T cell

A T cell, or T lymphocyte, is a type of lymphocyte (a subtype of white blood cell) that plays a central role in cell-mediated immunity.

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Thymoma with immunodeficiency

Thymoma with immunodeficiency (also known as "Good syndrome") is a condition that occurs in adults in whom hypogammaglobulinemia, deficient cell-mediated immunity, and benign thymoma may develop almost simultaneously.

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Thymus

The thymus is a specialized primary lymphoid organ of the immune system.

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TNF receptor associated periodic syndrome

TNF receptor associated periodic syndrome (TRAPSsubscription needed) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner.

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TNF receptor superfamily

The tumor necrosis factor receptor superfamily (TNFRSF) is a protein superfamily of cytokine receptors characterized by the ability to bind tumor necrosis factors (TNFs) via an extracellular cysteine-rich domain.

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Transient hypogammaglobulinemia of infancy

Transient hypogammaglobulinemia of infancy is a form of hypogammaglobulinemia appearing after birth, leading to a reduction in the level of IgG, and also sometimes IgA and IgM.

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Trypanosomiasis

Trypanosomiasis or trypanosomosis is the name of several diseases in vertebrates caused by parasitic protozoan trypanosomes of the genus Trypanosoma.

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UNC13D

Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.

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WHIM syndrome

WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.

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Wiskott–Aldrich syndrome

Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia).

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X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection.

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X-linked lymphoproliferative disease

X-linked lymphoproliferative disease (also known as "Duncan's disease" or "Purtilo syndrome") is a lymphoproliferative disorder.

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ZAP70

ZAP-70 (Zeta-chain-associated protein kinase 70) is a protein normally expressed near the surface membrane of T cells and natural killer cells.

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Immune disease, Primary Immune Deficiency, Primary immmune deficiencies, Primary immune deficiencies, Primary immune deficiency, Primary immunodeficiencies, Primary immunodeficiency disease, Primary immunodeficiency diseases, T cell immunodeficiency primary.

References

[1] https://en.wikipedia.org/wiki/Primary_immunodeficiency

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