title: [X-linked Bruton congenital agammaglobulinemia. Case report].
abstract: Congenital agamaglobulinemia is a B-cell deficiency caused by tirosin-kinase gene mutations. This article presents the case of a 2 years and 6 months old boy with a history of multiple respiratory infections, which also associates a malabsorbtion syndrome. The patient presented for symptoms of arthritis. After performing protein electrophoresis, the extremely low gamma fraction pointed out a hidden immunodeficiency. Gene analysis was performed in the Department of Pediatric Immunology of Debrecen University, Hungary and thus the final diagnosis was determined. Arthritis and respiratory symptoms improved after immunoglobulin treatment.
authors.affiliation: Universitatea de Medicină şi Farmacie Gr. T. Popa Iaşi, Facultatea de Medicină, Clinica a II(-A) Pediatrie.
authors.forename: Stefana Maria
authors.initials: SM
authors.lastname: Moisă
authors.forename: Aurica
authors.initials: A
authors.lastname: Rugină
authors.forename: Evelina
authors.initials: E
authors.lastname: Moraru
authors.forename: Stela
authors.initials: S
authors.lastname: Goţia
authors.forename: M
authors.initials: M
authors.lastname: Burlea
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D001168:Arthritis / Q000235:genetics; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007136:Immunoglobulins / Q000627:therapeutic use; D008286:Malabsorption Syndromes / Q000235:genetics; D008297:Male; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012141:Respiratory Tract Infections / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D007136:Immunoglobulins; D011505:Protein-Tyrosine Kinases