Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype

Pediatrics

Volumn 132, Issue 4, 2013, Pages

  Boggio, Elena ^a   Aricò, Maurizio ^b   Melensi, Matteo ^a   Dianzani, Irma ^a   Ramenghi, Ugo ^c   Dianzani, Umberto ^a   Chiocchetti, Annalisa ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

Author keywords

ALPS; FAS; FHL; MUNC13 4; XIAP; XLP

Indexed keywords

ANTIBIOTIC AGENT; ANTINUCLEAR ANTIBODY; BICARBONATE; DEXAMETHASONE; FAS ANTIGEN; IMMUNOGLOBULIN G; MUNC18 PROTEIN; OSTEOPONTIN; PHOSPHOLIPID ANTIBODY; RAB27A PROTEIN; STEROID; X LINKED INHIBITOR OF APOPTOSIS;

ANEMIA; ARTICLE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CASE REPORT; CAUSE OF DEATH; CELL FUNCTION; CHILD; CLINICAL FEATURE; DEATH; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; ELECTROCARDIOGRAM; EPSTEIN BARR VIRUS; FAS GENE; GENE; GENE MUTATION; GENERAL CONDITION DETERIORATION; HEMOPHAGOCYTIC SYNDROME; HEREDITY; HOSPITALIZATION; HUMAN; HYPERPYREXIA; IN VITRO STUDY; INFANT; LYMPHADENOPATHY; MACROPHAGE ACTIVATION SYNDROME; MALE; NATURAL KILLER CELL; NEUTROPENIA; OPN GENE; PANCYTOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN INTERACTION; RECURRENT DISEASE; RESPIRATORY DISTRESS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SPLEEN SIZE; SPLENECTOMY; SPLENOMEGALY; TACHYCARDIA; THROMBOCYTOPENIA; UNC13D GENE; X CHROMOSOME LINKED DISORDER; X LINKED LYMPHOPROLIFERATIVE DISEASE; XIAP GENE;

ALPS; FAS; FHL; MUNC13-4; XIAP; XLP;

ANTIGENS, CD95; ARTHRITIS, RHEUMATOID; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CHILD; DOWN-REGULATION; FATAL OUTCOME; FEMALE; GENES, OVERLAPPING; HUMANS; IMMUNOPHENOTYPING; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN;

EID: 84885086438     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-1838     Document Type: Article

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