Agammaglobulinemia congenital type bruton D80.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Agammaglobulinemia; agammaglobulinemia and hypogammaglobulinemia; Agammaglobulinemia and hypogammaglobulinemia X-linked infantile; Agammaglobulinemia infantile sex-linked; Antibody deficiency syndrome type Bruton; Bruton's disease; Bruton\'s disease; infantile; sex-linked; X-linked

History
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Bruton, 1952

Definition
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X-linked recessive hereditary disease with increased susceptibility to bacterial infection, absence of mature B-lymphocytes in blood and organs, absence of plasma cells in the bone marrow and lack of specific antibody formation due to disorders in the rearrangement of heavy chains in the formation of immunoglobulins.

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Etiopathogenesis
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X-linked recessive mutations of the BTK gene, which are located on the gene locus X (Xq21.3-q22) and lead to reduced expression of the enzyme Bruton tyrosine kinase (key enzyme of B cell development).

Manifestation
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Only boys. First manifestation usually between the 2nd month of life and the 5th year of age. Rarely the first manifestation occurs in the 2nd - 3rd decade (late-onset).

Clinical features
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Lack of antibody response to bacterial antigens, favours recurrent pyogenic infections (Haemophilus influenzae, Pneumococci, Streptococci, Staphylococci) from infancy onwards. Most often, children suffer from recurrent pyoderma, erythema nodosum, otitis media, bronchitis, meningitis, sepsis, cholesteatoma with acquired hearing loss, enteritis or arthritis.

Laboratory
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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 values below 100 mg%, IgA and IgM below 10 mg%.

Therapy
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Substitution of immunoglobulins (e.g. Intratect) 0.4 g/kg bw/day i.v. every 4 weeks If necessary bone marrow transplantation. Antibiotic therapy of infections.

Literature
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  1. Bruton OC (1952) Agammaglobulinemia. Pediatrics 9: 722-729
  2. Cellier C et al (2000) Regional enteritis associated with enterovirus in a patient with X-linked agammaglobulinemia. N Engl J Med 342: 1611-1612
  3. Conley ME, Howard V (2002) Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 141: 566-571
  4. Howard V et al (2003) Stem cell transplants for patients with X-linked agammaglobulinemia. Clin Immunol 107: 98-102
  5. 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
  6. Usui K et al (2001) Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults. Respir Res 2: 188-192

Outgoing links (2)

Erythema nodosum; Immunoglobulins;

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Last updated on: 29.10.2020