Details of Disease

General Information of Disease (ID: DISRW8BT)

Disease Name Autosomal agammaglobulinemia
Synonyms agammaglobulinemia, autosomal recessive, due to IGHM defect; AGM; agammaglobulinemia, non-Bruton type
Definition
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
Disease Hierarchy
DIS3W5M5: Isolated agammaglobulinemia
DISRW8BT: Autosomal agammaglobulinemia
Disease Identifiers
MONDO ID
MONDO_0011096
MESH ID
C538056
UMLS CUI
C1832241
MedGen ID
316941
Orphanet ID
33110

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TCF3 TTULOD8 Disputed GermlineCausalMutation [1]
CD79B TTBN5I7 Supportive Autosomal dominant [2]
CD79B TTBN5I7 Strong GermlineCausalMutation [3]
TCF3 TTULOD8 Definitive Semidominant [4]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BLNK OTSSPF6F Supportive Autosomal dominant [5]
CD79A OTOJC8DV Supportive Autosomal dominant [6]
CD79B OTEYGWSV Supportive Autosomal dominant [2]
IGLL1 OTRTNVOG Supportive Autosomal dominant [7]
LRRC8A OT23OE7H Supportive Autosomal dominant [8]
PIK3R1 OT5BZ1J9 Supportive Autosomal dominant [9]
TCF3 OTW6FR32 Definitive Semidominant [4]
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⏷ Show the Full List of 7 DOT(s)

References

1 A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. J Clin Invest. 2013 Nov;123(11):4781-5. doi: 10.1172/JCI71927.
2 Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med. 2007 Sep 3;204(9):2047-51. doi: 10.1084/jem.20070264. Epub 2007 Aug 20.
3 Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. J Immunol. 2007 Aug 15;179(4):2055-9. doi: 10.4049/jimmunol.179.4.2055.
4 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.
5 An essential role for BLNK in human B cell development. Science. 1999 Dec 3;286(5446):1954-7. doi: 10.1126/science.286.5446.1954.
6 Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet. 2002 Apr 1;108(4):333-6. doi: 10.1002/ajmg.10296.
7 Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med. 1998 Jan 5;187(1):71-7. doi: 10.1084/jem.187.1.71.
8 A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J Clin Invest. 2003 Dec;112(11):1707-13. doi: 10.1172/JCI18937.
9 Agammaglobulinemia and absent B lineage cells in a patient lacking the p85 subunit of PI3K. J Exp Med. 2012 Mar 12;209(3):463-70. doi: 10.1084/jem.20112533. Epub 2012 Feb 20.