Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key P...
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
About this item
Full title
Author / Creator
Sbihi, Zineb , Tanita, Kay , Bachelet, Camille , Bole, Christine , Jabot-Hanin, Fabienne , Tores, Frederic , Le Loch, Marc , Khodr, Radi , Hoshino, Akihiro , Lenoir, Christelle , Oleastro, Matias , Villa, Mariana , Spossito, Lucia , Prieto, Emma , Danielian, Silvia , Brunet, Erika , Picard, Capucine , Taga, Takashi , Abdrabou, Shimaa Said Mohamed Ali , Isoda, Takeshi , Yamada, Masafumi , Palma, Alejandro , Kanegane, Hirokazu and Latour, Sylvain
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Purpose
X-linked inhibitor of apoptosis protein (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome of type 2 (XLP-2), is a rare immunodeficiency characterized by recurrent hemophagocytic lymphohistiocytosis, splenomegaly, and inflammatory bowel disease. Variants in
XIAP
including missense, non-sense, frameshift, a...
Alternative Titles
Full title
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
Authors, Artists and Contributors
Author / Creator
Tanita, Kay
Bachelet, Camille
Bole, Christine
Jabot-Hanin, Fabienne
Tores, Frederic
Le Loch, Marc
Khodr, Radi
Hoshino, Akihiro
Lenoir, Christelle
Oleastro, Matias
Villa, Mariana
Spossito, Lucia
Prieto, Emma
Danielian, Silvia
Brunet, Erika
Picard, Capucine
Taga, Takashi
Abdrabou, Shimaa Said Mohamed Ali
Isoda, Takeshi
Yamada, Masafumi
Palma, Alejandro
Kanegane, Hirokazu
Latour, Sylvain
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2651907261
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2651907261
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-021-01188-z
