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Table of Contents
Vol. 141, No. 4, 2006
Issue release date: November 2006
Section title: Original Paper
Int Arch Allergy Immunol 2006;141:408–414
(DOI:10.1159/000095469)

Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked Agammaglobulinemia

Aghamohammadi 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

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 24, 2006
Accepted: June 27, 2006
Published online: November 15, 2006
Issue release date: November 2006

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 3

ISSN: 1018-2438 (Print)
eISSN: 1423-0097 (Online)

For additional information: http://www.karger.com/IAA

Abstract

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


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 24, 2006
Accepted: June 27, 2006
Published online: November 15, 2006
Issue release date: November 2006

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 3

ISSN: 1018-2438 (Print)
eISSN: 1423-0097 (Online)

For additional information: http://www.karger.com/IAA


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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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