Details of Disease

General Information of Disease (ID: DISHCVKX)

Disease Name Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Synonyms IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C
Disease Hierarchy
DIS225UQ: T-B- severe combined immunodeficiency
DISHCVKX: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Disease Identifiers
MONDO ID
MONDO_0033555
UMLS CUI
C5436550
OMIM ID
618987
MedGen ID
1734177

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
RAC2 OTAOHFNH Strong Autosomal recessive [1]
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References

1 RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. J Allergy Clin Immunol. 2015 May;135(5):1380-4.e1-5. doi: 10.1016/j.jaci.2014.10.039. Epub 2014 Dec 12.