Severe combined immunodeficiency, X-linked

Preferred Label : Severe combined immunodeficiency, X-linked;

Symbol : SCIDX1;

CISMeF acronym : IMD4; SCIDX1; XSCID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scidx; Immunodeficiency 4; IMD4; XSCID; Scid, X-linked; Severe combined immunodeficiency, X-linked, t cell-negative, b cell-positive, nk cell-negative;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the interleukin receptor gamma chain gene (IL2RG, 308380.0001);

Laboratory abnormalities : Low absolute lymphocyte count; Agammaglobulinemia;

Prefixed ID : #300400;

Details

Origin ID

300400;

UMLS CUI

C1279481;

Automatic exact mappings (from CISMeF team)
- IL2RG wt Allele [NCIt concept]
- symbol withdrawn SCIDX1 [HGNC gene]
Broader ORDO disease(s)
- Severe combined immunodeficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency [ICD-11 More detail]
- T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) [SNOMED CT concept]
- T-B+ severe combined immunodeficiency due to gamma chain deficiency [ORDO Disease]
- X-Linked Severe Combined Immunodeficiency [NCIt concept]
- X-Linked combined immunodeficiency diseases [MeSH concept]
- X-linked severe combined immunodeficiency [DO Concept]
- X-linked severe combined immunodeficiency (disorder) [Inactive SNOMED CT concept]
- x-linked combined immunodeficiency diseases [MeSH Descriptor]
DO Cross reference
- X-linked severe combined immunodeficiency [DO Concept]
Genes related to phenotype
- Interleukin 2 receptor, gamma [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Chronic diarrhea [HPO term]
- Chronic oral candidiasis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgE [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Failure to thrive [HPO term]
- Frequent bacterial, fungal and viral infections [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the thymus [HPO term]
- Impaired lymphocyte transformation with phytohemagglutinin [HPO term]
- Infantile onset [HPO term]
- Neonatal onset [HPO term]
- Pneumonia [HPO term]
- Recurrent bacterial meningitis [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced natural killer cell activity [HPO term]
- Severe combined immunodeficiency [HPO term]
- Skin rash [HPO term]
- T lymphocytopenia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- T-B+ severe combined immunodeficiency due to gamma chain deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency [ICD-11 More detail]
- X linked severe combined immunodeficiency [MedDRA LLT]
- X-Linked Severe Combined Immunodeficiency [NCIt concept]
- X-Linked combined immunodeficiency diseases [MeSH concept]
- X-linked severe combined immunodeficiency [DO Concept]
- X-linked severe combined immunodeficiency (disorder) [Inactive SNOMED CT concept]
- x-linked combined immunodeficiency diseases [MeSH Descriptor]

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