Home > D. General pathology > Genetic and developmental anomalies > X-linked agammaglobulinemia

X-linked agammaglobulinemia

MIM.300300

Friday 5 March 2004

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

- 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

- enteroviral hepatitis

- epididymitis
- prostatitis
- urinary tract infections

- anomalies of joints

- 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