Cernunnos deficiency and Primary immunodeficiency

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Difference between Cernunnos deficiency and Primary immunodeficiency

Cernunnos deficiency vs. Primary immunodeficiency

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

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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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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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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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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