Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

…, JB Wing, A Kennedy, A Bulashevska, BS Petersen… - Nature medicine, 2014 - nature.com
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of
immune responses, and its loss causes fatal autoimmunity in mice. We studied a large family …

CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

…, A Gandhi, A Russell, SK Dougan, BS Petersen… - Nature, 2015 - nature.com
T-cell immunoglobulin domain and mucin domain-3 (TIM-3, also known as HAVCR2) is an
activation-induced inhibitory molecule involved in tolerance and shown to induce T-cell …

[HTML][HTML] Opportunities and challenges of whole-genome and-exome sequencing

BS Petersen, B Fredrich, MP Hoeppner, D Ellinghaus… - BMC genetics, 2017 - Springer
Recent advances in the development of sequencing technologies provide researchers with
unprecedented possibilities for genetic analyses. In this review, we will discuss the history of …

XIAP variants in male Crohn's disease

Y Zeissig, BS Petersen, S Milutinovic, E Bosse, G Mayr… - Gut, 2015 - gut.bmj.com
Objective The genetic basis of inflammatory bowel disease (IBD) is incompletely understood.
The aim of this study was to identify rare genetic variants involved in the pathogenesis of …

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

…, P Heinz-Erian, J Yin, BS Petersen… - Human molecular …, 2015 - academic.oup.com
Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with
high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is …

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

…, M Auer-Grumbach, P De Rijk, BS Petersen… - Nature …, 2012 - nature.com
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their
clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding …

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

JR Kelsen, N Dawany, CJ Moran, BS Petersen… - Gastroenterology, 2015 - Elsevier
Background & Aims Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed
at 5 years of age or younger, frequently presents with a different and more severe …

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4

S Zeissig, BS Petersen, M Tomczak, E Melum… - Gut, 2015 - gut.bmj.com
Objective IBD is a group of complex, systemic disorders associated with intestinal inflammation
and extraintestinal manifestations. Recent studies revealed Mendelian forms of IBD, …

Reduced FOXP3+ regulatory T cells in patients with primary sclerosing cholangitis are associated with IL2RA gene polymorphisms

…, T Schoknecht, F Wortmann, A Quaas, BS Petersen… - Journal of …, 2014 - Elsevier
Background & Aims Recently, genome wide association studies in primary sclerosing cholangitis
(PSC) revealed associations with gene polymorphisms that potentially could affect the …

The genetics of Crohn's disease and ulcerative colitis – status quo and beyond

D Ellinghaus, J Bethune, BS Petersen… - Scandinavian journal of …, 2015 - Taylor & Francis
The two major subtypes of inflammatory bowel disease (IBD), ulcerative colitis (UC, MIM#191390)
and Crohn’s disease (CD, MIM#266600), are chronic relapsing-remitting inflammatory …