Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation

Clinical Immunology

Volumn 131, Issue 3, 2009, Pages 447-455

  McCusker, Christine ^a   Hotte, Simon ^a   Le Deist, Francoise ^b   Hirschfeld, Aaron F ^c   Mitchell, David ^a   Nguyen, Van Hung ^a   Gagnon, Remi ^d   Mazer, Bruce ^a   Turvey, Stuart E ^c   Jabado, Nada ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

^d UNIVERSITY OF QUEBEC   (Canada)

Author keywords

Hypomorphic mutation; Memory T cells; Omen syndrome; RAG; SCID

Indexed keywords

RAG1 PROTEIN; RECOMBINASE; T LYMPHOCYTE RECEPTOR;

ARTICLE; AUTOIMMUNE DISEASE; B LYMPHOCYTE; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOMORPHIC MUTATION; IMMUNOLOGICAL MEMORY; INFANT; LYMPHOPOIESIS; MEMORY T LYMPHOCYTE; MISSENSE MUTATION; OMENN SYNDROME; PARAINFLUENZA VIRUS 3; PHENOTYPE; PRIORITY JOURNAL; RAG1 GENE; RESPIRATORY SYNCYTIAL PNEUMOVIRUS; RISK FACTOR; ROTAVIRUS; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE;

CD4-POSITIVE T-LYMPHOCYTES; CHILD; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; LYMPH NODES; LYMPHOPENIA; MUTATION; SEVERE COMBINED IMMUNODEFICIENCY; SKIN; T-LYMPHOCYTE SUBSETS;

EID: 67349262032     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2009.01.014     Document Type: Article

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