Details of Disease | DrugMAP

General Information of Disease (ID: DISUEAF5)

Disease Name	Immunodeficiency 37
Synonyms	IMD37; combined immunodeficiency due to BCL10 deficiency; primary immunodeficiency disease caused by mutation in BCL10; immunodeficiency 37; immunodeficiency type 37; BCL10 primary immunodeficiency disease
Definition	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.\|BCL10 is definitively associated with combined immunodeficiency due to BCL10 deficiency. This has been repeatedly demonstrated in both the research and clinical diagnostic settings and has been upheld over time. See linked ticket for more details. This classification was approved by the ClinGen SCID/CID GCEP.
Disease Hierarchy	DISNGCMN: Inborn error of immunity DISUEAF5: Immunodeficiency 37
Disease Identifiers	MONDO ID MONDO_0014491 UMLS CUI C4015195 OMIM ID 616098 MedGen ID 863632

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
BCL10	OT47MCLI	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.