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

Clinical Immunology

Volumn 128, Issue 3, 2008, Pages 322-328

  Graziani, Simona ^a   Di Matteo, Gigliola ^a   Benini, Luigi ^b   Di Cesare, Silvia ^a   Chiriaco, Maria ^a   Chini, Loredana ^a   Chianca, Marco ^a   De Iorio, Fosca ^b   La Rocca, Maria ^a   Iannini, Roberta ^a   Corrente, Stefania ^a   Rossi, Paolo ^a,c   Moschese, Viviana ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Btk; Chronic obstructive pancreatitis; Sclerosing cholangitis; XLA

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; B LYMPHOCYTE; BTK GENE; CASE REPORT; CHRONIC PANCREATITIS; CONTROLLED STUDY; DYSGAMMAGLOBULINEMIA; FAMILY HISTORY; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOGLOBULIN BLOOD LEVEL; LUNG EMPHYSEMA; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SCLEROSING CHOLANGITIS; SKIN INFECTION; X LINKED AGAMMAGLOBULINEMIA;

ADULT; AGAMMAGLOBULINEMIA; AMINO ACID SUBSTITUTION; B-LYMPHOCYTES; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; LYMPHOCYTE COUNT; LYMPHOCYTE SUBSETS; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN-TYROSINE KINASES;

EID: 49149087892     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2008.05.012     Document Type: Article

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