X-linked severe combined immunodeficiency

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X-SCID Classification and external resources
ICD-10	D 80.0
ICD-9	279.2
OMIM	300400
DiseasesDB	33502
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.

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.

Prognosis

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

Antibody/humoral (B)	Hypogammaglobulinemia/agammaglobulinemia (X-linked, Transient of infancy) - Dysgammaglobulinemia (IgA, IgG, IgM) - Hyper IgM syndrome (2, 3, 4, 5) - Common variable immunodeficiency

Cell-mediated (T)	DiGeorge syndrome - Nezelof syndrome - Purine nucleoside phosphorylase deficiency - Ataxia telangiectasia - Hyper IgM syndrome (1)

Severe combined (B+T)	x-linked: X-SCID autosomal: Adenosine deaminase deficiency - Omenn syndrome - ZAP70 deficiency - Bare lymphocyte syndrome

Complement deficiency	Angioedema - Complement 2 deficiency

PBD	chemotaxis/degranulation (Leukocyte adhesion deficiency, Chediak-Higashi syndrome, Hyper-IgE syndrome) respiratory burst (Chronic granulomatous disease, Myeloperoxidase deficiency)

Other	ICF syndrome - Wiskott-Aldrich syndrome - WHIM syndrome

Acquired

AIDS

Immunoproliferative

Hypergammaglobulinemia

Paraproteinemia (Cryoglobulinemia, Heavy chain disease, POEMS syndrome, Monoclonal gammopathy of undetermined significance)

Lymphoproliferative disorders (Sarcoidosis)

Other

Hypersensitivity and Autoimmunity/Autoimmune disease

See also hematological malignancy and hematology

v • d • e Sex linkage: X-linked recessive disorders

Immune	Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked Severe Combined Immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX

Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia · X-linked lymphoproliferative disease

Endocrine	Androgen insensitivity syndrome/Kennedy disease · Diabetes insipidus

Metabolic	amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome dyslipidemia: Adrenoleukodystrophy carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb lipid storage disorder: Fabry's disease mucopolysaccharidosis: Hunter syndrome purine-pyrimidine metabolism: Lesch-Nyhan syndrome mineral: Menkes disease

Nervous system	X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X syndrome · MASA syndrome · Rett syndrome eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease

Skin	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis

Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy · Myotubular myopathy · Conradi-Hünermann syndrome

Urologic	Alport syndrome · Dent's disease

No primary system	Barth syndrome · McLeod syndrome · Simpson-Golabi-Behmel syndrome

Note: there are very few X-linked dominant disorders. These include X-linked hypophosphatemia, Focal dermal hypoplasia, Aicardi syndrome, Incontinentia pigmenti, and CHILD.

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