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

 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

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#