A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease

Clinical and Experimental Immunology

Volumn 152, Issue 1, 2008, Pages 39-44

  Conley, M E ^a,b   Farmer, D M ^b   Dobbs, A K ^b   Howard, V ^b   Aiba, Y ^c   Shurtleff, S A ^b   Kurosaki, T ^c  

^a UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^b ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^c RIKEN Center for Integrative Medical Sciences   (Japan)

Author keywords

Agammaglobulinaemia; B lymphocytes; Immunological deficiency syndromes; Penetrance; Protein tyrosine kinases

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN M ANTIBODY; INOSITOL TRISPHOSPHATE; MUTANT PROTEIN; TETANUS TOXOID;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; B LYMPHOCYTE; CALCIUM TRANSPORT; CANCER CELL CULTURE; CASE REPORT; CD19+ B LYMPHOCYTE; CELL COUNT; CELL PROLIFERATION; CELL STRAIN DT40; CELL SURVIVAL; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; MALE; MONOCYTE; PERIPHERAL CIRCULATION; PRIORITY JOURNAL; SEROTYPING; WILD TYPE; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; ANIMALS; B-LYMPHOCYTES; CALCIUM; CHICKENS; HUMANS; IMMUNOGLOBULINS; INFANT; INOSITOL PHOSPHATES; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION; PEDIGREE; PROTEIN-TYROSINE KINASES; TRANSFECTION; TUMOR CELLS, CULTURED;

EID: 40449094173     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/j.1365-2249.2008.03593.x     Document Type: Article

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