Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ Immunodeficiency

Journal of Clinical Immunology

Volumn 32, Issue 5, 2012, Pages 1141-1144

  Heimall, Jennifer ^a   Keller, Michael ^a   Saltzman, Rushani ^a   Bunin, Nancy ^a   McDonald McGinn, Donna ^a   Zakai, Elaine ^a   De Villartay, Jean Pierre ^b,c,d   Moshous, Despina ^b,c,d   Ariue, Barbara ^e   McCarthy, Elizabeth A ^f   Devlin, Blythe H ^f   Parikh, Suhag ^f   Buckley, Rebecca H ^f   Markert, M Louise ^f  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e LOMA LINDA UNIVERSITY MEDICAL CENTER   (United States)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

22Q11 deletion; DiGeorge anomaly; Immunodeficiency; SCID

Indexed keywords

ALEMTUZUMAB; ANTIVIRUS AGENT; ARTEMIS PROTEIN; CALCINEURIN INHIBITOR; CYCLOPHOSPHAMIDE; FLUDARABINE; GALACTOMANNAN; PROTEIN; STEROID; T LYMPHOCYTE RECEPTOR; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG;

ANEMIA; ANTIVIRAL THERAPY; AORTA ARCH ANOMALY; ARTEMIS DEFICIENCY; ARTEMIS GENE; ARTICLE; B LYMPHOCYTE; BACTERIOPHAGE; BONE MARROW BIOPSY; BONE MARROW CELL; BONE MARROW TRANSPLANTATION; BRAIN ABSCESS; CANDIDA ZEYLANOIDES; CANDIDIASIS; CASE REPORT; CD15+ T LYMPHOCYTE; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CHILD; CHOANA ATRESIA; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; CHRONIC DISEASE; COMPRESSION FRACTURE; CORD BLOOD STEM CELL TRANSPLANTATION; COXSACKIE VIRUS; CYTOMEGALOVIRUS; CYTOMEGALOVIRUS INFECTION; DIARRHEA; DISEASE ASSOCIATION; DONOR; ENGRAFTMENT; ENTEROBACTER AEROGENES; ESCHERICHIA COLI; EXTRACORPOREAL OXYGENATION; FAILURE TO THRIVE; FEEDING INTOLERANCE; FEMALE; FIBROBLAST; GENE; GENETIC DISORDER; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; KIDNEY FAILURE; LIVER ABSCESS; LUNG ABSCESS; LUNG NODULE ABSCESS; LYMPHOCYTE COUNT; LYMPHOCYTE FUNCTION; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; MICROGNATHIA; MYCOSIS; NOCARDIA VIRUS; NUTRITIONAL INTOLERANCE; PARAINFLUENZA VIRUS INFECTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PURE RED CELL ANEMIA; QUANTITATIVE ANALYSIS; RECIPIENT; RESPIRATORY FAILURE; SEPSIS; SEQUENCE ANALYSIS; SEVERE COMBINED IMMUNODEFICIENCY; SMALL FOR DATE INFANT; STEROID THERAPY; T LYMPHOCYTE; THYMUS; THYMUS TRANSPLANTATION; URINARY TRACT INFECTION; VERTEBRAL COMPRESSION FRACTURE; VIRAL BRONCHIOLITIS;

DIGEORGE SYNDROME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; NUCLEAR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84866739076     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9741-9     Document Type: Article

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