[Widely divergent clinical phenotype of x-linked agammaglobulinemia in two cousins]. / Groot verschil in klinisch fenotype van X-gebonden agammaglobulinemie bij twee neefjes.
Ned Tijdschr Geneeskd
; 148(21): 1053-6, 2004 May 22.
Article
em Nl
| MEDLINE
| ID: mdl-15185441
X-linked agammaglobulinaemia (XLA) is a primary immunodeficiency caused by a mutation in the gene encoding Bruton's tyrosine kinase (BTK). The classical presentation of XLA consists of the almost complete absence of B-lymphocytes and immunoglobulins in the peripheral blood leading to severe, mainly bacterial, upper and lower respiratory-tract infections already in early childhood. Irrespective of the kind of BTK-gene mutation the phenotype of XLA can be very diverse. Two 9-year-old cousins with the same BTK-gene mutation illustrate this phenotypical diversity. One boy had a classical presentation and was on maintenance treatment with intravenous immunoglobulins and prophylactic antibiotics to control his infections. Without any prophylactic treatment, his cousin had no abnormal infectious course despite very low B-lymphocyte counts and immunoglobulin levels in the blood. The mechanisms underlying the phenotypical diversity of XLA have not been clarified. Gene polymorphisms affecting the innate immune system may play a role.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Agamaglobulinemia
/
Doenças Genéticas Ligadas ao Cromossomo X
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
Nl
Revista:
Ned Tijdschr Geneeskd
Ano de publicação:
2004
Tipo de documento:
Article
País de publicação:
Holanda