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Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked AgammaglobulinemiaAghamohammadi A.a · Fiorini M.c · Moin M.a · Parvaneh N.a · Teimourian S.a · Yeganeh M.a · Goffi F.c · Kanegane H.d · Amirzargar A.A.b · Pourpak Z.a · Rezaei N.a · Salavati A.a · Pouladi N.a · Abdollahzade S.a · Notarangelo L.D.c · Miyawaki T.d · Plebani A.c
aDivision of Clinical Pediatric Immunology, Children’s Medical Center, Immunology, Asthma and Allergy Research Institute, and bDepartment of Immunology, Tehran University of Medical Sciences, Tehran, Iran; cClinica Pediatrica e Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Brescia, Italy; dDepartment of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan
Background: X-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency characterized by an early onset of recurrent bacterial infections, a profound deficiency of all immunoglobulin isotypes and a markedly reduced number of peripheral B lymphocytes. Eighty-five percent of the patients with this phenotype have mutations in Bruton’s tyrosine kinase (BTK) gene. Methods: To provide an informative outlook of clinical and immunological manifestations of XLA in Iran, 37 Iranian male patients with an age range of 1–34 years, followed over a period of 25 years, were studied. Twenty-four of the 37 patients were screened for BTK gene mutation using PCR-SSCP followed by direct sequencing. BTK protein expression assay was done by flow cytometry in 9 families. Results: All patients first presented with infectious diseases, the most common of which were respiratory tract infections. Eighteen different mutations were identified, 13 of which were novel: IVS1+5G>C, 1896G>A, 349delA, 1618C>T, 1783T>C, 2084A>G, 1346delT, 1351delGAG, 587A>G, IVS14–1G>A, IVS3+2T>C, 1482G>A, 1975C>A. Conclusion: The fact that we found a great number of novel mutations in a relatively limited number of patients underlines the heterogeneity of BTK mutations in the Iranian population. The large number of new mutations indicates that extended studies in this region would be rewarding.
© 2006 S. Karger AG, Basel