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@article{1673768,
author = {Parackova, Zuzana and Milota, Tomas and Vrabcova, Petra and Smetanova, Jitka and Svaton, Michael and Freiberger, Tomáš and Kanderova, Veronika and Sediva, Anna},
article_location = {LONDON},
article_number = {6},
doi = {http://dx.doi.org/10.1038/s41419-020-2652-4},
keywords = {X-LINKED INHIBITOR; CELL-DEATH; DEFICIENCY; ACTIVATION; KINASE; IAP},
language = {eng},
issn = {2041-4889},
journal = {CELL DEATH & DISEASE},
title = {Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease},
url = {https://www.nature.com/articles/s41419-020-2652-4.pdf},
volume = {11},
year = {2020}
}
TY - JOUR
ID - 1673768
AU - Parackova, Zuzana - Milota, Tomas - Vrabcova, Petra - Smetanova, Jitka - Svaton, Michael - Freiberger, Tomáš - Kanderova, Veronika - Sediva, Anna
PY - 2020
TI - Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease
JF - CELL DEATH & DISEASE
VL - 11
IS - 6
SP - 1-11
EP - 1-11
PB - NATURE PUBLISHING GROUP
SN - 20414889
KW - X-LINKED INHIBITOR
KW - CELL-DEATH
KW - DEFICIENCY
KW - ACTIVATION
KW - KINASE
KW - IAP
UR - https://www.nature.com/articles/s41419-020-2652-4.pdf
L2 - https://www.nature.com/articles/s41419-020-2652-4.pdf
N2 - X-linked inhibitor of apoptosis (XIAP) is the most potent human inhibitor of apoptosis, and is also involved in NOD2-dependent NF kappa B and MAPK signalling cascade activation. The absence or defective function of XIAP leads to the development of a rare and severe primary immunodeficiency known as X-linked lymphoproliferative syndrome type 2 (XLP-2), which is characterized by a triad of clinical manifestations, including a high incidence of haemophagocytic lymphohistiocytosis (HLH), lymphoproliferation and inflammatory bowel disease (IBD), usually with very early onset. Here, we present a novel XIAP mutation identified in a patient with atypical adult-onset IBD complicated by relapsing HLH, splenomegaly and sarcoid-like disease. The c.266delA mutation in the XIAP gene creates a premature stop codon, and causes a severe reduction in XIAP protein expression. The mutation is also associated with impaired spontaneous and staurosporine- and PMA-induced apoptosis accompanied by significantly increased expression of pro-apoptotic genes. We also confirmed the negative impact of this particular XIAP mutation on NOD2-dependent NF kappa B and MAPK activation, while NOD2-independent activation was found to be unaffected. Moreover, we assume that the mutation has an impact on the overproduction of IL-12 and IFN gamma, the shift towards the Th1 immune response and increased numbers of central memory and effector memory CD4+ and CD8+ T cells. All these changes contribute to immune dysregulation and the clinical manifestation of XLP-2.
ER -
PARACKOVA, Zuzana, Tomas MILOTA, Petra VRABCOVA, Jitka SMETANOVA, Michael SVATON, Tomáš FREIBERGER, Veronika KANDEROVA a Anna SEDIVA. Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease. \textit{CELL DEATH \&{} DISEASE}. LONDON: NATURE PUBLISHING GROUP, roč.~11, č.~6, s.~1-11. ISSN~2041-4889. doi:10.1038/s41419-020-2652-4. 2020.
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