agammaglobulinemia 3, autosomal recessive
Findings
No curated finding names agammaglobulinemia 3, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.
Definition from the Mondo Disease Ontology (MONDO:0013288), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent circulating B cellsHPOHP:0030252
- 1 of 1 reported patient
- Absent circulating isohemagglutininHPOHP:0410293
- 1 of 1 reported patient
- AgammaglobulinemiaHPOHP:0004432
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Recurrent bacterial infectionsHPOHP:0002718
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CD79AHGNC:1698
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: agammaglobulinemia 3, autosomal recessive
- Also called
- autosomal agammaglobulinemia caused by mutation in CD79ACD79A autosomal agammaglobulinemia