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X-linked Hypogammaglobulinaemia (Brutoiťs Disease) - Three Čase Studies and Molecular Genetic Studies in Their Families


Authors: E. Pařízková 1;  P. Rozsíval 1;  T. Freiberger 2;  D. Komárek 1
Authors‘ workplace: Dětská klinika Fakultní nemocnice, Hradec přednostka doc. MUDr. E. Pařízková, CSc. Genetická laboratoř, Centrum kardio vedoucí MUDr. T. Freiterger, PhD.
Published in: Čes-slov Pediat 2004; (3): 119-122.
Category:

Overview

X-linked agammaglobulinaemia is a primary immune deficiency, which presents with severe infections early in life. Because of good results of complex therapy, which is based on immune globulin substitution, early diagnosis is imperative, before the development of chronic complications. Due to the inheritance of the disease, it is appropriate to offer genetic counselling and testing to the family members, too. In three čase studies of patients from two families, authors present typical features and effect of therapy. Molecular genetic studies in both of the families were carried out, confirming carriership in the patients' sisters.

Key words:
Bruton's disease, X-linked agammaglobulinaemia, agammaglobulinaemia, IVIG, BTK mutation

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Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
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