X-SCID

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X-SCID Classification and external resources
OMIM	300400
MeSH	D053632

X-linked Severe Combined Immunodeficiency (X-SCID) is a profound and severe immunodeficiency characterized by the complete absence of NK cells and T cells in the peripheral blood.

[edit] Cause

It is caused by mutations of the IL2RG gene. This gene codes for the Cytokine receptor common gamma chain, a receptor for a number of cytokines involved in maintaining T cell homeostasis and stimulating immune cell development. Without a functional receptor, the cells cannot develop normally, and are unable to protect the body.

[edit] Prognosis

Patients with this condition suffer severe and recurrent infections that are usually fatal in the first years of life.

[edit] See also

• Severe combined immunodeficiency
• List of genetic disorders

v • d • e Pathology: Immune disorders (primarily D80-D89, 273, 279) Immunodeficiency/ primary Antibody/humoral (B) Hypogammaglobulinemia/agammaglobulinemia (X-linked, Transient of infancy) - Dysgammaglobulinemia (IgA, IgG) - Common variable immunodeficiency - WHIM syndrome Cell-mediated (T) DiGeorge syndrome - Nezelof syndrome - Purine nucleoside phosphorylase deficiency Combined (B+T) Severe combined immunodeficiency (Adenosine deaminase deficiency, Omenn syndrome, X-SCID, ZAP70 deficiency) - Bare lymphocyte syndrome - Wiskott-Aldrich syndrome Complement deficiency Angioedema PBD chemotaxis/degranulation (Leukocyte adhesion deficiency, Chédiak-Higashi syndrome, Hyper-IgE syndrome) respiratory burst (Chronic granulomatous disease, Myeloperoxidase deficiency) Other ICF syndrome Immunoproliferative Hypergammaglobulinemia Paraproteinemia (Cryoglobulinemia, Heavy chain disease, POEMS syndrome, Monoclonal gammopathy of undetermined significance) Lymphoproliferative disorders (Sarcoidosis) Hypersensitivity Type I (Allergy) - Type II - Type III (Serum sickness) - Type IV (Contact dermatitis) Autoimmunity/Autoimmune disease See also hematological malignancy and hematology