Combined immunodeficiency, X-linked

Preferred Label : Combined immunodeficiency, X-linked;

Symbol : CIDX;

CISMeF acronym : CIDX; IMD6; XCID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XCID; Immunodeficiency 6; IMD6;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the interleukin-2 receptor, gamma chain, gene (IL2RG, 308380.0008);

Laboratory abnormalities : Reduced IgG levels;

Prefixed ID : #312863;

Details

Origin ID

312863;

UMLS CUI

C1279481;

Automatic exact mappings (from CISMeF team)
- IL2RG wt Allele [NCIt concept]
- symbol withdrawn CIDX [HGNC gene]
DO Cross reference
- combined T cell and B cell immunodeficiency [DO Concept]
Genes related to phenotype
- Interleukin 2 receptor, gamma [OMIM gene]
HPO term(s)
- Combined immunodeficiency [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Decreased proportion of CD8-positive T cells [HPO term]
- Otitis media [HPO term]
- Pneumonia [HPO term]
- Recurrent bronchitis [HPO term]
- Sinusitis [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormal B cell count [HPO term]
- Abnormal natural killer cell count [HPO term]
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]
Validated automatic mappings to BTNT
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency [ICD-11 More detail]
- x-linked combined immunodeficiency diseases [MeSH Descriptor]
Validated automatic mappings to NTBT
- combined T cell and B cell immunodeficiency [DO Concept]

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