Immunodeficiency 56

Preferred Label : Immunodeficiency 56;

Symbol : IMD56;

CISMeF acronym : IMD56;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Il21r immunodeficiency;

Description : IL21R immunodeficiency is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 21 receptor gene (IL21R, 605383.0002);

Prefixed ID : #615207;

Details

Origin ID

615207;

UMLS CUI

C3554687;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to IL21R deficiency [ORDO Disease]
- IL21R wt Allele [NCIt concept]
- immunodeficiency 56 [DO Concept]
DO Cross reference
- immunodeficiency 56 [DO Concept]
Genes related to phenotype
- Interleukin 21 receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Cholangitis [HPO term]
- Chronic diarrhea [HPO term]
- Chronic hepatitis due to cryptosporidium infection [HPO term]
- Cirrhosis [HPO term]
- Failure to thrive [HPO term]
- Hepatic failure [HPO term]
- Immunodeficiency [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Pneumocystis jirovecii pneumonia [HPO term]
- Recurrent infection of the gastrointestinal tract [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to IL21R deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 56 [DO Concept]

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