Immunodeficiency 33

Preferred Label : Immunodeficiency 33;

Symbol : IMD33;

CISMeF acronym : AMCBX1; IMD33;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Invasive pneumococcal disease, recurrent isolated, 2; IPD2;

Description : Mendelian susceptibility to mycobacterial disease is a congenital syndrome resulting in predisposition to clinical disease caused by weakly virulent mycobacterial species, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous, environmental mycobacteria. Patients are also susceptible to the more virulent species Mycobacterium tuberculosis (Filipe-Santos et al., 2006). For further information on susceptibility to mycobacterial disease, as well as for information on susceptibility to mycobacterial disease due to mutations in several autosomal genes, see 209950. For information on X-linked susceptibility to mycobacterial disease in which mutations in the NEMO gene have been excluded, see 300645.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma gene (IKBKG, 300248.0018);

Prefixed ID : #300636;

Details

Origin ID

300636;

UMLS CUI

C1970879;

Automatic exact mappings (from CISMeF team)
- IKBKG wt Allele [NCIt concept]
- X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency [ORDO Disease]
- immunodeficiency 33 [DO Concept]
Currated CISMeF NLP mapping
- X-linked mendelian susceptibility to mycobacterial diseases [ORDO Disease]
- atypical mycobacteriosis, familial, X-Linked 1 [MeSH concept]
DO Cross reference
- immunodeficiency 33 [DO Concept]
- immunodeficiency 34 [DO Concept]
Genes related to phenotype
- Inhibitor of nuclear factor kappa-b kinase, regulatory subunit gamma [OMIM gene]
HPO term(s)
- Conical tooth [HPO term]
- Decreased circulating total IgM [HPO term]
- Delayed eruption of teeth [HPO term]
- Disseminated nontuberculous mycobacterial infection [HPO term]
- Hypodontia [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgA level [HPO term]
- Recurrent bacterial infections [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked mendelian susceptibility to mycobacterial diseases [ORDO Disease]
- X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- atypical mycobacteriosis, familial, X-Linked 1 [MeSH concept]

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