X-linked recessive disease associated with mutations in BTK gene, coding for the Bruton tyrosine kinase (also known as BPK or ATK), a key regulator in B-cell development.
Synopsis
bacerial infections
- Streptococcus pneumoniae
- Haemophilus influenzae
otitis media
hearing loss
conjunctivitis
sinusitis
rudimentary adenoids
rudimentary tonsils
bacterial acute adenitis
pulmonary anomalies
- pneumonia
- chronic bronchial infection
- bronchiectasis
- hypoxemia and cor pulmonale
digestive anomalies
- chronic atrophic gastritis (11007143)
- gastric intestinal metaplasia (11007143)
- gastric adenocarcinoma (11007143, 8348486)
- giardiasis (lamblia infections)
- diarrhea
- recurrent fissuring necrosis of small bowel resembling Crohn disease
- regional enteritis associated with enterovirus (10841685)
enteroviral hepatitis
epididymitis
prostatitis
urinary tract infections
anomalies of joints
- septic arthritis
- rheumatoid arthritis (15564308)
pyoderma
enteroviral dermatomyositis syndrome
meningitis
progressive encephalitis
chronic polioencephalitis with cerebral atrophy (572414)
Echovirus encephalitis (93470)
delayed speech acquisition
frequent bacterial infections
severe enteroviral infections
regional enteritis-like enteropathy (2966759)
small lymph nodes
absent B-lymphocytes in all organs
absent plasma cells in all organs
increased incidence of rectosigmoid cancer
absent or severely reduced levels of serum immunoglobulins
susceptibility to infections start in the first year of life
multiple colorectal tumors and colorectal cancer (17967562)
Etiology
Caused by mutations in the Bruton agammaglobulinemia tyrosine kinase gene (MIM.300300)
References
Ochs HD, Smith CI. X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine (Baltimore). 1996 Nov;75(6):287-99. PMID: 8982147
Washington K, Stenzel TT, Buckley RH, Gottfried MR. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol. 1996 Oct;20(10):1240-52. PMID: 8827031
Bruton OC. Agammaglobulinemia. Pediatrics. 1952 Jun;9(6):722-8. PMID: 14929630