Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells : XLA diagnosis or not?

The identification of a Btk mutation in a male patient with <2% CD19(+) B cells warrants making the diagnosis of X-linked Agammaglobulinemia (XLA). Herein we report the case of a 31 year-old male with a gradual decline of peripheral B lymphocytes and low IgA and IgM but normal IgG levels. His cli...

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Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 128(2008), 3 vom: 16. Sept., Seite 322-8
1. Verfasser: Graziani, Simona (VerfasserIn)
Weitere Verfasser: Di Matteo, Gigliola, Benini, Luigi, Di Cesare, Silvia, Chiriaco, Maria, Chini, Loredana, Chianca, Marco, De Iorio, Fosca, La Rocca, Maria, Iannini, Roberta, Corrente, Stefania, Rossi, Paolo, Moschese, Viviana
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2008
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Protein-Tyrosine Kinases EC 2.7.10.1 Agammaglobulinaemia Tyrosine Kinase EC 2.7.10.2 BTK protein, human