A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

Journal of Clinical Investigation

Volumn 115, Issue 11, 2005, Pages 3291-3299

  De Villartay, Jean Pierre ^a,b   Lim, Annick ^c   Al Mousa, Hamoud ^b   Dupont, Sophie ^d   Déchanet Merville, Julie ^e   Coumau Gatbois, Edith ^b   Gougeon, Marie Lise ^c   Lemainque, Arnaud ^f   Eidenschenk, Céline ^g   Jouanguy, Emmanuelle ^g   Abel, Laurent ^g   Casanova, Jean Laurent ^b,g   Fischer, Alain ^a,b   Le Deist, Françoise ^a,b  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c INSTITUT PASTEUR   (France)

^d UNIVERSITY OF MONTREAL   (Canada)

^e UNIVERSITÉ DE BORDEAUX   (France)

^f CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; RAG1 PROTEIN; RAG2 PROTEIN; T LYMPHOCYTE RECEPTOR;

ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNITY; B LYMPHOCYTE; BONE MARROW TRANSPLANTATION; CASE REPORT; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; FEMALE; GENE MUTATION; GRAFT VERSUS HOST REACTION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOFLUORESCENCE; INFANT; LYMPHOCYTOPENIA; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PNEUMOCYSTIS PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; T LYMPHOCYTE; T LYMPHOCYTE SUBPOPULATION; VIRUS PNEUMONIA;

EID: 27644559049     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI25178     Document Type: Article

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