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DefinitionThis section has been translated automatically.
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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).
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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 levels below 100 mg%, IgA and IgM below 10 mg%.
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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 (15)Agammaglobulinemia1, autosomal recessive; Agammaglobulinemia and hypogammaglobulinemia, x-linked, infantile; Agammaglobulinemia infantile sex-linked; Antibody deficiency syndrome, bruton type; B-cell receptor; Bruton\'s disease; Bruton´s-Tyrosinkinase; BTK gene; BTK inhibitors and autoimmun diseases; CVID; ... Show all
Outgoing links (6)Agammaglobulinemia1, autosomal recessive; BTK gene; Erythema nodosum; IL2RG Gene; Immunoglobulins; Severe Combined Immunodeficiency, X-Linked;;
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