Details of Disease

General Information of Disease (ID: DISKR6QJ)

Disease Name Combined immunodeficiency
Synonyms combined T and B cell immunodeficiency; combined T cell and B cell immunodeficiency; X-linked combined immunodeficiency; CID; congenital combined immunodeficiency; combined immunodeficiency
Definition
A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.
Disease Hierarchy
DIS093I0: Immunodeficiency
DISKR6QJ: Combined immunodeficiency
Disease Identifiers
MONDO ID
MONDO_0015131
UMLS CUI
C2711630
MedGen ID
751396
HPO ID
HP:0005387
Orphanet ID
101972
SNOMED CT ID
442459007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ICOSLG TTB9Z8R Moderate Autosomal recessive [1]
CTPS1 TTN12BZ Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ICOSLG OTAD976B Moderate 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.
2 CTP synthetase activity assay by liquid chromatography tandem mass spectrometry in the multiple reaction monitoring mode.J Mass Spectrom. 2019 Nov;54(11):885-893. doi: 10.1002/jms.4442.