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Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation
Author(s) -
Takagi Masatoshi,
Hoshino Akihiro,
Yoshida Kenichi,
Ueno Hiroo,
Imai Kohsuke,
Piao Jinhua,
Kanegane Hirokazu,
Yamashita Motoi,
Okano Tsubasa,
Muramatsu Hideki,
Okuno Yusuke,
Shiraishi Yuichi,
Chiba Kenichi,
Tanaka Hiroko,
Miyano Satoru,
Ogawa Seishi,
Hayashi Yasuhide,
Kojima Seiji,
Morio Tomohiro
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26831
Subject(s) - medicine , exome sequencing , immunology , phenotype , gene , autoimmune disease , autoimmune lymphoproliferative syndrome , autoimmunity , exome , genetics , antibody , biology , apoptosis , fas receptor , programmed cell death
Autoimmune diseases in children are rare and can be difficult to diagnose. Single causative genes have been identified for some pediatric autoimmune diseases. Such orphan diseases may not be diagnosed properly due to the variability of patients' phenotypes. Guidelines for the diagnostic process need to be developed. Fifteen patients with uncharacterized childhood autoimmune diseases with lymphoproliferation that had negative testing for autoimmune lymphoproliferative syndrome were subjected to whole‐exome sequencing to identify genes associated with these conditions. Five causative genes, CTLA4 , STAT3 , TNFAIP3 , IKZF1 , and PSTPIP1 , were identified. These genes should be considered as candidates for uncharacterized childhood autoimmune diseases with lymphoproliferation.