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Cernunnos deficiency

Index 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. [1]

25 relations: Antibiotic, Antibody, Base pair, Blood test, Bone, Cernunnos, Combined immunodeficiencies, Cytogenetics, DNA, DNA repair protein XRCC4, Dominance (genetics), Dysmorphic feature, Genitourinary system, Hematopoietic stem cell transplantation, Hypogammaglobulinemia, Immunodeficiency, Immunoglobulin A, Immunoglobulin M, Infection, LIG4 syndrome, Lymphocytopenia, Microcephaly, Nijmegen breakage syndrome, Non-homologous end-joining factor 1, Nucleotide.

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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Base pair

A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.

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Blood test

A blood test is a laboratory analysis performed on a blood sample that is usually extracted from a vein in the arm using a hypodermic needle, or via fingerprick.

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Bone

A bone is a rigid organ that constitutes part of the vertebrate skeleton.

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Cernunnos

Cernunnos is the conventional name given in Celtic studies to depictions of the "horned god" of Celtic polytheism.

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Combined immunodeficiencies

Combined immunodeficiencies (or combined immunity deficiency) are immunodeficiency disorders that involve multiple components of the immune system, including both humoral immunity and cell-mediated immunity.

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Cytogenetics

Cytogenetics is a branch of genetics that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis.

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DNA

Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.

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DNA repair protein XRCC4

DNA repair protein XRCC4 also known as X-ray repair cross-complementing protein 4 or XRCC4 is a protein that in humans is encoded by the XRCC4 gene.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Dysmorphic feature

A dysmorphic feature is a difference of body structure.

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Genitourinary system

The genitourinary system or urogenital system is the organ system of the reproductive organs and the urinary 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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Hypogammaglobulinemia

Hypogammaglobulinemia is a type of primary immunodeficiency disease in which not enough gamma globulins exist in the blood (thus hypo- + gamma + globulin + -emia).

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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 M

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

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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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LIG4 syndrome

LIG4 syndrome (also known as Ligase IV syndrome) is an extremely rare condition caused by mutations in the DNA Ligase IV (LIG4) gene.

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Lymphocytopenia

Lymphocytopenia, or lymphopenia, is the condition of having an abnormally low level of lymphocytes in the blood.

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Microcephaly

Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.

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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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Non-homologous end-joining factor 1

Non-homologous end-joining factor 1 (NHEJ1), also known as Cernunnos or XRCC4-like factor (XLF), is a protein that in humans is encoded by the NHEJ1 gene.

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Nucleotide

Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.

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References

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

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