Immunodeficiency 41 with lymphoproliferation and autoimmunity

Preferred Label : Immunodeficiency 41 with lymphoproliferation and autoimmunity;

Symbol : IMD41;

CISMeF acronym : IMD41;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Interleukin 2 receptor, alpha, deficiency of; Il2ra deficiency; Cd25 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 2 receptor, alpha gene (IL2RA, 147730.0001);

Prefixed ID : #606367;

Détails

Origin ID

606367;

UMLS CUI

C1853392;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency due to CD25 deficiency [ORDO Disease]
- immunodeficiency 41 [DO Concept]
Currated CISMeF NLP mapping
- interleukin 2 receptor, alpha, deficiency of [MeSH concept]
- interleukin 2 receptor, alpha, deficiency of [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 41 [DO Concept]
Genes related to phenotype
- Interleukin 2 receptor, alpha [OMIM gene]
HPO term(s)
- Alopecia universalis [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Cellulitis [HPO term]
- Chronic diarrhea [HPO term]
- Chronic oral candidiasis [HPO term]
- Concave nasal ridge [HPO term]
- Decreased CD4:CD8 ratio [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased lymphocyte proliferation in response to anti-CD3 [HPO term]
- Decreased proportion of CD4+CD25+ regulatory T cells [HPO term]
- Decreased specific anti-polysaccharide antibody level [HPO term]
- Eczema [HPO term]
- Enlarged tonsils [HPO term]
- Erythroderma [HPO term]
- Failure to thrive in infancy [HPO term]
- Hemolytic anemia [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypothyroidism [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgE level [HPO term]
- Lymphadenopathy [HPO term]
- Patchy alopecia [HPO term]
- Prominent forehead [HPO term]
- Psoriasiform dermatitis [HPO term]
- Pulmonary infiltrates [HPO term]
- Pulmonary interstitial lymphocyte infiltration [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent viral infections [HPO term]
- Scaling skin [HPO term]
- Severe varicella zoster infection [HPO term]
- T lymphocytopenia [HPO term]
- Thyroiditis [HPO term]
- Type I diabetes mellitus [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Immunodeficiency due to CD25 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- interleukin 2 receptor, alpha, deficiency of [MeSH Supplementary Concept]
- interleukin 2 receptor, alpha, deficiency of [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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