Details of Disease

General Information of Disease (ID: DISUNBB3)

Disease Name Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
Synonyms immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias; IMD99
Definition
An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.
Disease Hierarchy
DIS093I0: Immunodeficiency
DISUNBB3: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
Disease Identifiers
MONDO ID
MONDO_0030798
UMLS CUI
C5676971
OMIM ID
619846
MedGen ID
1801342

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
CTNNBL1 OT6KLHPA Limited Unknown [1]
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References

1 Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 Aug 3;130(8):4411-4422. doi: 10.1172/JCI131297.