Abstract

ARNALDEZ, Fernanda; DANELIAN, Silvia  and  BEZRODNIK, Liliana. Diagnóstico y portación de agammaglobulinemia ligada al cromosoma X en una familia. Arch. argent. pediatr. [online]. 2006, vol.104, n.1, pp.39-43. ISSN 0325-0075.

Ten percent of primary immunodeficiency syndromes in children are represented by agammaglobulinemias. Clinical manifestations may include pneumonia, sinusitis, meningitis, encephalitis, arthritis, diarrhea, skin infections and poliomyelitis. Hypogammaglobulinemia and the absence of B lymphocytes are considered key diagnostic findings. Molecular analysis can confirm the presence of mutations in Btk gene, responsible for the disease. The aim of this study was to report two male family members with XLA, in which, after the first case detected with a common phenotype, the second one showed "atypical" clinical and immunologic features. By familial screening, carrier diagnosis was identified in the mother and two sisters.

Keywords : Agammaglobulinemia; Primary immunodeficiency.

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