Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Małgorzata Pac; Bożena Mikołuć; Barbara Pietrucha; Beata Wolska-Kuśnierz; Barbara Piątosa; Jacek Michałkiewicz; Hanna Gregorek; Ewa Bernatowska

doi:10.5114/ceji.2013.37748

eISSN: 1644-4124
ISSN: 1426-3912

Central European Journal of Immunology

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3/2013
vol. 38

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abstract:

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Małgorzata Pac

,

Bożena Mikołuć

,

Barbara Pietrucha

,

Beata Wolska-Kuśnierz

,

Barbara Piątosa

,

Jacek Michałkiewicz

,

Hanna Gregorek

,

Ewa Bernatowska

(Centr Eur J Immunol 2013; 38 (3): 367-371)

DOI: https://doi.org/10.5114/ceji.2013.37748

Online publish date: 2013/10/28

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The retrospective analysis of a immunological and clinical survey in 33 boys with definitive diagnosis of X-linked agammaglobulinemia, based on ESID criteria, is presented. Recurrent lower respiratory tract infections were the most common presentation with the onset at the age of 1 year 3 months, when maternal antibodies disappeared. The clinical diagnosis was usually delayed by 2 years and 6 months. The mean IgG level at diagnosis was 1.03 g/l (range 0-4.0 g/l). Mean IgA was 0.039 g/l (range 0-0.38 g/l) and IgM – 0.189 g/l (range 0.021-3.51 g/l). The total number of B cells was decreased and varied between 0-391 cells/µl, with the mean value of 26 cells/µl and 0.65%. The replacement therapy with intravenous immunoglobulin (IVIG) preparation was also delayed, and introduced at the mean age of 3 years 5 months. In some patients it was followed with subcutaneous immunoglobulin (SCIG). The overall prognosis in XLA patients is good if diagnosis and immunoglobulin replacement therapy are done early before the onset of chronic complications. Diagnosis was established through molecular analysis.

keywords:

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Małgorzata Pac , Bożena Mikołuć , Barbara Pietrucha , Beata Wolska-Kuśnierz , Barbara Piątosa , Jacek Michałkiewicz , Hanna Gregorek , Ewa Bernatowska

agammaglobulinemia, primary immunodeficiencies, immunoglobulin replacement therapy, Btk gene

Małgorzata Pac

,

Bożena Mikołuć

,

Barbara Pietrucha

,

Beata Wolska-Kuśnierz

,

Barbara Piątosa

,

Jacek Michałkiewicz

,

Hanna Gregorek

,

Ewa Bernatowska