Bruton-type agammaglobulinemia
Findings
No curated finding names Bruton-type agammaglobulinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.
Definition from the Mondo Disease Ontology (MONDO:0010421), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
49 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
- 22 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Bronchiolitis obliteransHPOHP:0011946
- 2 of 2 reported patients
- Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccineHPOHP:0410303
- 1 of 1 reported patient
- Decreased circulating IgE concentrationHPOHP:0005479
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 3 of 3 reported patients
- Decreased total B cell countHPOHP:0010976
- 44 of 44 reported patients
Show the remaining 37
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- ConjunctivitisHPOHP:0000509
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 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)
- GlossoptosisHPOHP:0000162
- Very frequent (80% to 99% of cases)
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.
- BTKHGNC:1133
- Definitive · ClinGen · X-linked · 2020
- Definitive · Myriad Women's Health · X-linked · 2018
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: Bruton-type agammaglobulinemia
- Also called
- agammaglobulinemia, X-linked 1, X-linked recessiveBruton type agammaglobulinemiaBruton's Sex-linked agammaglobulinemiaBruton's X-linked agammaglobulinemiaBTK-deficiencyX-linked agammaglobulinemia