Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL

Molecular Immunology

Volumn 56, Issue 4, 2013, Pages 354-357

  Bajin, Inci Yaman ^a   Ayvaz, Deniz Çaǧdaş ^a   Ünal, Şule ^a   Özgür, Tuba Turul ^a   Çetin, Mualla ^a   Gümrük, Fatma ^a   Tezcan, Ilhan ^a   de Villartay, Jean Pierre ^b   Sanal, Özden ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Artemis; Hyper IgM syndrome; SCID

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CD3 ANTIGEN; CD8 ANTIGEN; COTRIMOXAZOLE; FLUCONAZOLE; GANCICLOVIR; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; METHOTREXATE; METHYLPREDNISOLONE; PREDNISOLONE; T LYMPHOCYTE RECEPTOR; DCLRE1C PROTEIN, HUMAN; NUCLEAR PROTEIN;

ABDOMINAL DISTENSION; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANEMIA; ANTIBIOTIC PROPHYLAXIS; ANTIBIOTIC THERAPY; ARTEMIS DEFECT; ARTEMIS GENE; ARTICLE; ASCITES; ASCITES FLUID; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BONE MARROW BIOPSY; BRONCHITIS; CANCER COMBINATION CHEMOTHERAPY; CARDIOPULMONARY ARREST; CASE REPORT; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL STRUCTURE; CHILD; DIARRHEA; EXON; FEVER; GENE; GENE DELETION; GENERAL CONDITION DETERIORATION; GENETIC DISORDER; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEPATOSPLENOMEGALY; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPER IGM SYNDROME; HYPERBILIRUBINEMIA; HYPERTRANSAMINASEMIA; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPHENOTYPING; LARGE GRANULAR LYMPHOCYTE LEUKEMIA; LIVER BIOPSY; LUNG INFILTRATE; LYMPHOCYTOSIS; MALE; MONOCYTE; MOUTH ULCER; NEUTROPHIL COUNT; OPPORTUNISTIC INFECTION; OTITIS MEDIA; PERICARDIAL EFFUSION; PHYSICAL EXAMINATION; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCLEROSING CHOLANGITIS; SEPTIC SHOCK; SEVERE COMBINED IMMUNODEFICIENCY; STAPHYLOCOCCUS; STAPHYLOCOCCUS SAPPROPHYTICUS; THORAX RADIOGRAPHY; THROMBOCYTOPENIA; UPPER RESPIRATORY TRACT INFECTION; VANCOMYCIN RESISTANT ENTEROCOCCUS; VIRUS INFECTION; VIRUS LOAD; WEIGHT GAIN; COMPLICATION; DEFICIENCY; DIFFERENTIAL DIAGNOSIS; FATALITY; GENETICS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; LEUKEMIA, LARGE GRANULAR LYMPHOCYTIC; MUTATION;

CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; LEUKEMIA, LARGE GRANULAR LYMPHOCYTIC; MALE; MUTATION; NUCLEAR PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84881086382     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2013.05.004     Document Type: Article

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