Details of Disease | DrugMAP

General Information of Disease (ID: DISRVZOT)

Disease Name	Combined immunodeficiency due to LRBA deficiency
Synonyms	immunodeficiency, common variable, 8, with autoimmunity; CVID8; combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISRVZOT: Combined immunodeficiency due to LRBA deficiency
Disease Identifiers	MONDO ID MONDO_0013863 UMLS CUI C3553512 OMIM ID 614700 MedGen ID 766426 Orphanet ID 445018 SNOMED CT ID 1197477000

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
LRBA	OTOUZN9G	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.