A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele

Journal of Clinical Immunology

Volumn 35, Issue 3, 2015, Pages 244-248

  Yang, Xi ^a   Hoshino, Akihiro ^a   Taga, Takashi ^b   Kunitsu, Tomoaki ^b   Ikeda, Yuhachi ^b   Yasumi, Takahiro ^c   Yoshida, Kenichi ^c   Wada, Taizo ^d   Miyake, Kunio ^e   Kubota, Takeo ^e   Okuno, Yusuke ^f   Muramatsu, Hideki ^f   Adachi, Yuichi ^a   Miyano, Satoru ^g   Ogawa, Seishi ^c   Kojima, Seiji ^f   Kanegane, Hirokazu ^a,h  

^a UNIVERSITY OF TOYAMA   (Japan)

^b SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^c KYOTO UNIVERSITY   (Japan)

^d KANAZAWA UNIVERSITY   (Japan)

^e UNIVERSITY OF YAMANASHI   (Japan)

^f NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g UNIVERSITY OF TOKYO   (Japan)

^h TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Hemophagocytic lymphohistiocytosis; X chromosome inactivation; X linked inhibitor of apoptosis; X linked lymphoproliferative syndrome

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; COMPLEMENTARY DNA; INTERLEUKIN 18; INTERLEUKIN 1BETA CONVERTING ENZYME; MESSENGER RNA; TUMOR NECROSIS FACTOR ALPHA; X LINKED INHIBITOR OF APOPTOSIS;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; HAIR ROOT; HUMAN; INCOMPLETE HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; NEWBORN; PANCYTOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; X CHROMOSOME INACTIVATION; X LINKED LYMPHOPROLIFERATIVE DISEASE; DEFICIENCY; GENETICS; HEMOPHAGOCYTIC SYNDROME; INFANT; MALE; MUTATION; X CHROMOSOME;

ALLELES; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MUTATION; PANCYTOPENIA; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN;

EID: 84925536858     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0144-6     Document Type: Article

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