title: Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Clinical Pediatric Immunology, Children's Medical Center, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. aghamohammadi@sina.tums.ac.ir
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Maurilia
authors.initials: M
authors.lastname: Fiorini
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Nima
authors.initials: N
authors.lastname: Parvaneh
authors.forename: Shahram
authors.initials: S
authors.lastname: Teimourian
authors.forename: Mehdi
authors.initials: M
authors.lastname: Yeganeh
authors.forename: Francesca
authors.initials: F
authors.lastname: Goffi
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Amirzargar
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Ali
authors.initials: A
authors.lastname: Salavati
authors.forename: Nima
authors.initials: N
authors.lastname: Pouladi
authors.forename: Sina
authors.initials: S
authors.lastname: Abdollahzade
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
mesh_terms: D000293:Adolescent; D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human