XIAP deficiency is a mendelian cause of late-onset IBD

Gut

Volumn 63, Issue 6, 2014, Pages 1031-1032

  Speckmann, Carsten ^a   Ehl, Stephan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

X LINKED INHIBITOR OF APOPTOSIS;

CAUSAL ATTRIBUTION; CROHN DISEASE; DISEASE ASSOCIATION; FLOW CYTOMETRY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INFLAMMATORY BOWEL DISEASE; LETTER; ONSET AGE; PATIENT CARE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; X LINKED INHIBITOR OF APOPTOSIS DEFICIENCY;

IBD - GENETICS; IBD CLINICAL; IMMUNODEFICIENCY; SCREENING;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFLAMMATORY BOWEL DISEASES;

EID: 84899124366     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2013-306474     Document Type: Letter

References (4)

1. Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut 2013;62:1795-805.
2. Damgaard RB, Nachbur U, Yabal M, et al. The Ubiquitin Ligase XIAP Recruits LUBAC for NOD2 Signaling in Inflammation and Innate Immunity. Molecular Cell 2012;46:746-58.
3. Speckmann C, Lehmberg K, Albert MH, et al. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 2013;149:133-41.
4. Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011;13:255-62.