autosomal agammaglobulinemia
Findings
No curated finding names autosomal agammaglobulinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011096), read 2026-09-29. CC BY 4.0.
Features
29 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.
- AgammaglobulinemiaHPOHP:0004432
- Very frequent (80% to 99% of cases)
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- ConjunctivitisHPOHP:0000509
- Very frequent (80% to 99% of cases)
- CoughHPOHP:0012735
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
- Recurrent skin infectionsHPOHP:0001581
- Very frequent (80% to 99% of cases)
- SinusitisHPOHP:0000246
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Skin rashHPOHP:0000988
- Very frequent (80% to 99% of cases)
- ArthritisHPOHP:0001369
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- OsteomyelitisHPOHP:0002754
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- BronchiectasisHPOHP:0002110
- Occasional (5% to 29% of cases)
Genes
8 genes
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.
- TCF3HGNC:11633
- Definitive · ClinGen · Semidominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- BLNKHGNC:14211
- Supportive · Orphanet · Autosomal dominant · 2021
- CD79AHGNC:1698
- Supportive · Orphanet · Autosomal dominant · 2021
- CD79BHGNC:1699
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:5541HGNC:5541
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (8)
- agammaglobulinemia 2, autosomal recessive
- agammaglobulinemia 3, autosomal recessive
- agammaglobulinemia 4, autosomal recessive
- agammaglobulinemia 5, autosomal dominant
- agammaglobulinemia 6, autosomal recessive
- agammaglobulinemia 7, autosomal recessive
- agammaglobulinemia 8, autosomal dominant
- autosomal recessive agammaglobulinemia 1
Other names
2 names
Resolves to: autosomal agammaglobulinemia
- Also called
- agammaglobulinemia, non-Bruton typeAGM