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BTK : 22 novel and 25 recurrent mutations in European patients with X‐linked agammaglobulinemia
Author(s) -
Fiorini Maurilia,
Franceschini Roberta,
Soresina Annarosa,
Schumacher RichardFabian,
Ugazio Alberto G.,
Rossi Paolo,
Plebani Alessandro,
Notarangelo Luigi D.
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9219
Subject(s) - x linked agammaglobulinemia , bruton's tyrosine kinase , biology , primary immunodeficiency , exon , immunodeficiency , single strand conformation polymorphism , mutation , phenotype , genetics , gene , coding region , cancer research , tyrosine kinase , immunology , signal transduction , immune system
X linked agammaglobulinemia (XLA) is an immunodeficiency disease caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase ( BTK ), that is involved in signal transduction pathways regulating survival, activation, proliferation, and differentation of B lineage lymphoid cells. XLA is a primary immunodeficiency disorder characterized by lack of mature, circulating B lymphocytes, and recurrent infections. Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing we investigated 57 patients with XLA phenotype, with or without a positive family history, from 52 unrelated families enrolled in the Italian XLA Multicenter Clinical Study. We have identified 25 recurrent mutations, 22 novel mutations including one large deletion comprising the coding sequence from exon 11 to 18. Among the mutations identified, three were detected in different unrelated families, whereas all the others were private mutations. © 2004 Wiley‐Liss, Inc.