Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

Clinical Immunology

Volumn 146, Issue 2, 2013, Pages 84-89

  Recher, Mike ^a,b   Fried, Ari J ^a   Massaad, Michel J ^a   Kim, Hye Young ^a   Rizzini, Michela ^c   Frugoni, Francesco ^a   Walter, Jolan E ^a,e   Mathew, Divij ^a   Eibel, Hermann ^d   Hess, Christoph ^b   Giliani, Silvia ^c   Umetsu, Dale T ^a   Notarangelo, Luigi D ^a   Geha, Raif S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY OF BRESCIA   (Italy)

^d UNIVERSITY OF FREIBURG   (Germany)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Agammaglobulinemia; B cells; EBV; SAP; X linked lymphoproliferative disease

Indexed keywords

IMMUNOGLOBULIN; MESSENGER RNA; RITUXIMAB; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; X LINKED INHIBITOR OF APOPTOSIS;

ANTIBODY PRODUCTION; ARTICLE; B LYMPHOCYTE; CASE REPORT; CHILD; CONJUNCTIVITIS; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IMMUNOGLOBULIN BLOOD LEVEL; IN VITRO STUDY; INTRON; LOSS OF FUNCTION MUTATION; LYMPHOCYTE DIFFERENTIATION; MALE; OTITIS MEDIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT DISEASE; RESPIRATORY TRACT INFECTION; RNA SPLICING; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; ANIMALS; CHILD, PRESCHOOL; FEMALE; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; MALE; MICE; SRC HOMOLOGY DOMAINS;

EID: 84871825463     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2012.11.007     Document Type: Article

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