HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
You might also be interested in
EtiopathogenesisThis section has been translated automatically.
X-linked recessive mutations of the BTK gene localized to gene locus X (Xq21.3-q22) leading to decreased expression of the enzyme Bruton tyrosine kinase(key enzyme in B cell development).
ManifestationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
LaboratoryThis section has been translated automatically.
- FACS analysis: CD19+ cells < 1%.
- Bone marrow biopsy: absence of plasma cells.
- Differential blood count: absence of B lymphocytes.
- Protein electrophoresis: Hypogammaglobulinemia.
- Serum proteins: IgG values below 100 mg%, IgA and IgM below 10 mg%.
TherapyThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Bruton OC (1952) Agammaglobulinemia. Pediatrics 9: 722-729
- Cellier C et al (2000) Regional enteritis associated with enterovirus in a patient with X-linked agammaglobulinemia. N Engl J Med 342: 1611-1612
- Conley ME, Howard V (2002) Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 141: 566-571
Fancher KMet al.(2020) Drug interactions with Bruton's tyrosine kinase inhibitors: clinical implications and management. Cancer Chemother Pharmacol 86: 507-515.
- Howard V et al (2003) Stem cell transplants for patients with X-linked agammaglobulinemia. Clin Immunol 107: 98-102
- Jo EK et al (2003) Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients. J Hum Genet 48: 322-326
- Usui K et al (2001) Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults. Respir Res 2: 188-192
Incoming links (10)Agammaglobulinemia and hypogammaglobulinemia, x-linked, infantile; Agammaglobulinemia infantile sex-linked; Antibody deficiency syndrome, bruton type; B-cell receptor; Bruton\'s disease; BTK gene; BTK inhibitors and autoimmun diseases; Dermatitis-arthritis syndromes; Immunodeficiency syndrome variable; Sepsis skin changes;
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.