agammaglobulinemia 8b, autosomal recessive
MONDO:0859234Mondo
Findings
No curated finding names agammaglobulinemia 8b, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Decreased CD8+ TEMRA T cell proportionHPOHP:0500266
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 3 reported patients
- Decreased circulating IgE concentrationHPOHP:0005479
- 1 of 1 reported patient
- Decreased circulating IgM concentrationHPOHP:0002850
- 3 of 3 reported patients
- Decreased total B cell countHPOHP:0010976
- 3 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Everted upper lip vermilionHPOHP:0010803
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Increased effector memory CD8+ T cell proportionHPOHP:0410395
- 1 of 1 reported patient
- Overfolded helixHPOHP:0000396
- 2 of 2 reported patients
Show the remaining 11
- Partial absence of specific antibody response to tetanus vaccineHPOHP:0410297
- 1 of 1 reported patient
- Prominent stem of antihelixHPOHP:0011240
- 2 of 2 reported patients
- Short philtrumHPOHP:0000322
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 3 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 2 of 3 reported patients
- AgammaglobulinemiaHPOHP:0004432
- 1 of 2 reported patients
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.
- TCF3HGNC:11633
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of