Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation

Pediatric Transplantation

Volumn 16, Issue 5, 2012, Pages

  Çaǧdaş, Deniz ^a   Özgür, Tuba Turul ^a   Asal, Gülten Türkkan ^a   Revy, Patrick ^b   De Villartay, Jean Pierre ^b   Van Der Burg, Mirjam ^c   Sanal, Özden ^a   Tezcan, Ilhan ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Cernunnos XLF; hematopoietic stem cell transplantation; SCID

Indexed keywords

CORTICOSTEROID; COTRIMOXAZOLE; CYCLOSPORIN; CYCLOSPORIN A; FLUCONAZOLE; GANCICLOVIR; HEMOGLOBIN; IMMUNOGLOBULIN;

ACUTE GRAFT VERSUS HOST DISEASE; ANAMNESIS; ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; B LYMPHOCYTE; BODY WEIGHT; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CERNUNNOS GENE; CERNUNNOS XLF DEFECT; CODON; CONTROLLED STUDY; COOMBS POSITIVE HEMOLYTIC ANEMIA; COUGHING; CYTOMEGALOVIRUS INFECTION; DIARRHEA; DRUG DOSE INCREASE; ENZYME DEFICIENCY; ERYTHROCYTE TRANSFUSION; EXON; FEBRILE NEUTROPENIA; FEMALE; FEVER; FLOW CYTOMETRY; GENE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOLYSIS; HISTOPATHOLOGY; HLA SYSTEM; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; INTESTINE BIOPSY; INTESTINE ENDOSCOPY; MICROCEPHALY; NATURAL KILLER CELL; NONSENSE MUTATION; PNEUMONIA; SEVERE COMBINED IMMUNODEFICIENCY; T B NK SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE; WEIGHT REDUCTION;

BONE MARROW TRANSPLANTATION; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GENETIC MARKERS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84863727700     PISSN: 13973142     EISSN: 13993046     Source Type: Journal    
DOI: 10.1111/j.1399-3046.2011.01491.x     Document Type: Article

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