201. Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not?
- Author
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Paolo Rossi, Maria Chiriaco, R Iannini, Silvia Di Cesare, M Chianca, Fosca De Iorio, S Corrente, Luigi Benini, Maria La Rocca, Gigliola Di Matteo, Loredana Chini, Viviana Moschese, Simona Graziani, Graziani S, Di Matteo G, Benini L, Di Cesare S, Chiriaco M, Chini L, Chianca M, De Iorio F, La Rocca M, Iannini R, Corrente S, Rossi P, and Moschese V.
- Subjects
Adult ,Male ,sclerosing cholangitis ,medicine.medical_specialty ,XLA ,Pancreatic disease ,Immunology ,Mutation, Missense ,Article ,CD19 ,Pathogenesis ,dysgammaglobulinemia ,Agammaglobulinemia ,Molecular genetics ,hemic and lymphatic diseases ,Agammaglobulinaemia Tyrosine Kinase ,medicine ,Humans ,Immunology and Allergy ,Bruton's tyrosine kinase ,Missense mutation ,Lymphocyte Count ,Chronic obstructive pancreatitis ,Dysgammaglobulinemia ,Autoimmune pancreatitis ,Settore MED/38 - Pediatria Generale e Specialistica ,B-Lymphocytes ,biology ,business.industry ,autoimmune pancreatitis ,pathogenesis ,Genetic Diseases, X-Linked ,Protein-Tyrosine Kinases ,medicine.disease ,Lymphocyte Subsets ,Pedigree ,Amino Acid Substitution ,Btk ,Sclerosing cholangitis ,biology.protein ,Female ,business - Abstract
The identification of a Btk mutation in a male patient with
- Published
- 2008