Details of Disease

General Information of Disease (ID: DISEZ5L1)

Disease Name Severe combined immunodeficiency due to CARD11 deficiency
Synonyms IMD11; IMD11A; immunodeficiency 11; CARD11 immunodeficiency; immunodeficiency type 11; immunodeficiency 11A; SCID due to CARD11 deficiency
Definition
Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.
Disease Hierarchy
DISYM8XY: T+ B+ severe combined immunodeficiency
DISEZ5L1: Severe combined immunodeficiency due to CARD11 deficiency
Disease Identifiers
MONDO ID
MONDO_0014081
UMLS CUI
C3554686
OMIM ID
615206
MedGen ID
767600
Orphanet ID
357237

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CARD11 OTRCTLYC Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.