Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG

Blood

Volumn 118, Issue 2, 2011, Pages 252-261

  Rigaud, Stéphanie ^a,b,e   Lopez Granados, Eduardo ^c,f   Sibéril, Sophie ^a,g   Gloire, Geoffrey ^a   Lambert, Nathalie ^a   Lenoir, Christelle ^a   Synaeve, Cindy ^a,b   Stacey, Maria ^c,h   Fugger, Lars ^c   Stephan, Jean Louis ^d   Fischer, Alain ^a,b   Picard, Capucine ^a,b   Durandy, Anne ^a,b   Chapel, Helen ^c   Latour, Sylvain ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d HÔPITAL NORD   (France)

^e SCRIPPS RESEARCH INSTITUTE   (United States)

^f HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CD40 LIGAND G219R; LYMPHOCYTE ANTIGEN; UNCLASSIFIED DRUG; X LINKED INHIBITOR OF APOPTOSIS;

ADULT; ARTICLE; BACTERIAL INFECTION; CLINICAL ARTICLE; CLINICAL FEATURE; COLITIS; CONTROLLED STUDY; EPSTEIN BARR VIRUS; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; HUMAN X LINKED VARIABLE IMMUNODEFICIENCY; HYPER IGM SYNDROME; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; LABORATORY; LIVER DISEASE; LYMPHOCYTE PROLIFERATION; LYMPHOPROLIFERATIVE DISEASE; MALE; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; SPLENOMEGALY; VIRUS INFECTION; X CHROMOSOME RECESSIVE DISORDER;

EID: 79960443600     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-01-328849     Document Type: Article

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