Genetics of inflammatory bowel disease from multifactorial to monogenic forms

Splice-Correction Strategies for Treatment of X-Linked Agammaglobulinemia

(2015) Burcu Bestas et al.   CURRENT ALLERGY AND ASTHMA REPORTS

Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype

(2015) Nina Kathrin Serwas et al.   INFLAMMATORY BOWEL DISEASES

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

(2014) Stephan Borte et al.   CLINICAL IMMUNOLOGY

Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators

(2014) Rhiannon Parkhouse et al.   FEBS LETTERS

Variants in Nicotinamide Adenine Dinucleotide Phosphate Oxidase Complex Components Determine Susceptibility to Very Early Onset Inflammatory Bowel Disease

(2014) Sandeep S. Dhillon et al.   GASTROENTEROLOGY

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease

(2014) Yaron Avitzur et al.   GASTROENTEROLOGY

Mevalonate kinase deficiency and IBD: shared genetic background

(2014) Anna Monica Bianco et al.   GUT

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

(2014) Sebastian Zeissig et al.   GUT

XIAP variants in male Crohn's disease

(2014) Yvonne Zeissig et al.   GUT

Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency

(2014) Elisabeth Salzer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers

(2014) Claire Aguilar et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

(2014) Roxane Lemoine et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling

(2014) Samuele Naviglio et al.   Journal of Crohns & Colitis

Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease

(2014) Cheng Hiang Lee et al.   Journal of Crohns & Colitis

An inherited mutation inNLRC4causes autoinflammation in human and mice

(2014) Akiko Kitamura et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Exoming into Rare Skin Disease: EGFR Deficiency

(2014) Matthew A. Brooke et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR

(2014) Patrick Campbell et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

(2014) Jochen Kammermeier et al.   JOURNAL OF MEDICAL GENETICS

Exome Sequencing Identifies a Novel FOXP3 Mutation in a 2-Generation Family With Inflammatory Bowel Disease

(2014) David T. Okou et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

(2014) Scott W Canna et al.   NATURE GENETICS

Exome Sequencing Identifies DLG1 as a Novel Gene for Potential Susceptibility to Crohn's Disease in a Chinese Family Study

(2014) Shufang Xu et al.   PLoS One

IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans

(2014) Antonella de Luca et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

(2014) Lin-Lin Wang et al.   Journal of Immunology Research

Functional T Cell Immunodeficiencies (with T Cells Present)

(2013) Luigi D. Notarangelo   Annual Review of Immunology

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

(2013) A. Fabre et al.   ARCHIVES OF DISEASE IN CHILDHOOD

X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

(2013) C. Speckmann et al.   CLINICAL IMMUNOLOGY

Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

(2013) David Ellinghaus et al.   GASTROENTEROLOGY

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

(2013) Holm H Uhlig   GUT

Phenotypic Characterization of Very Early-onset IBD Due to Mutations in the IL10, IL10 Receptor Alpha or Beta Gene

(2013) Bénédicte Pigneur et al.   INFLAMMATORY BOWEL DISEASES

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

(2013) Rui Chen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Wiskott–Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

(2013) Maria Carmina Castiello et al.   JOURNAL OF AUTOIMMUNITY

Syndromic diarrhea/Tricho-hepato-enteric syndrome

(2013) Alexandre Fabre et al.   Orphanet Journal of Rare Diseases

Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency

(2013) M. Levy et al.   PEDIATRICS

Impact of exome sequencing in inflammatory bowel disease

(2013) Christopher J Cardinale   WORLD JOURNAL OF GASTROENTEROLOGY

A red baby should not be taken too lightly

(2012) Flavio Faletra et al.   ACTA PAEDIATRICA

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

(2012) Qing Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

IL-10 and IL-10 receptor defects in humans

(2012) Erik-Oliver Glocker et al.   Annals of the New York Academy of Sciences

Interleukin-10 and Interleukin-10–Receptor Defects in Inflammatory Bowel Disease

(2012) Neil Shah et al.   CURRENT ALLERGY AND ASTHMA REPORTS

Complex Roles of Caspases in the Pathogenesis of Inflammatory Bowel Disease

(2012) Christoph Becker et al.   GASTROENTEROLOGY

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

(2012) H Mao et al.   GENES AND IMMUNITY

IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis

(2012) Christopher J. Moran et al.   INFLAMMATORY BOWEL DISEASES

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency

(2012) Fabian Hauck et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

(2012) Abdullah Alangari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

(2012) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency

(2012) Philippe Bégin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

(2012) Mary Ellen Conley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A common genetic background could explain early-onset Crohn’s disease

(2012) Anna Monica Bianco et al.   MEDICAL HYPOTHESES

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Familial Diarrhea Syndrome Caused by an ActivatingGUCY2CMutation

(2012) Torunn Fiskerstrand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autoimmunity in Wiskott–Aldrich Syndrome: An Unsolved Enigma

(2012) Marco Catucci et al.   Frontiers in Immunology

Inflammatory bowel disease: is it a primary immunodeficiency?

(2011) Erik Glocker et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

(2011) Kerstin Felgentreff et al.   CLINICAL IMMUNOLOGY

Inflammation profile of four early onset Crohn patients

(2011) Annalisa Marcuzzi et al.   GENE

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant inNCF2that results in reduced binding to RAC2

(2011) Aleixo M Muise et al.   GUT

New IBD genetics: common pathways with other diseases

(2011) C. W. Lees et al.   GUT

Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency

(2011) Tomoyuki Mizukami et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Infantile Colitis as a Novel Presentation of Familial Mediterranean Fever Responding to Colchicine Therapy

(2011) Odul Egritas et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

(2011) Carl A Anderson et al.   NATURE GENETICS

Inflammatory Skin and Bowel Disease Linked toADAM17Deletion

(2011) Diana C. Blaydon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mevalonate Kinase Deficiency: A Survey of 50 Patients

(2011) B. Bader-Meunier et al.   PEDIATRICS

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

(2010) Naomi J. Lohr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

(2010) M. Meeths et al.   BLOOD

X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene

(2010) Kota Maekawa et al.   BLOOD CELLS MOLECULES AND DISEASES

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease

(2010) Shradha Agarwal et al.   INFLAMMATORY BOWEL DISEASES

The Management of Gastrointestinal Disease in Hermansky-Pudlak Syndrome

(2010) Adrian J. Mora et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

The universe of immune deficiencies in Crohn's disease: a new viewpoint for an old disease?

(2010) Alberto Tommasini et al.   SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

The Genetics of Crohn's Disease

(2009) Johan Van Limbergen et al.   Annual Review of Genomics and Human Genetics

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

(2009) J. D. Matute et al.   BLOOD

Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

(2009) Laurence E. Cheng et al.   CLINICAL IMMUNOLOGY

Chronic Inflammatory Bowel Disease as Key Manifestation of Atypical ARTEMIS Deficiency

(2009) Jan Rohr et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Impaired CD4 and CD8 Effector Function and Decreased Memory T Cell Populations in ICOS-Deficient Patients

(2009) N. Takahashi et al.   JOURNAL OF IMMUNOLOGY

Common variants at five new loci associated with early-onset inflammatory bowel disease

(2009) Marcin Imielinski et al.   NATURE GENETICS

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease

(2008) Daniel J B Marks et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Gastrointestinal complications of epidermolysis bullosa in children

(2008) E.B. Freeman et al.   BRITISH JOURNAL OF DERMATOLOGY

XBP1 Links ER Stress to Intestinal Inflammation and Confers Genetic Risk for Human Inflammatory Bowel Disease

(2008) Arthur Kaser et al.   CELL

IBD and IBD mimicking enterocolitis in children younger than 2 years of age

(2008) Z. Cannioto et al.   EUROPEAN JOURNAL OF PEDIATRICS

Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

(2008) Anna Villa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

(2008) Subra Kugathasan et al.   NATURE GENETICS

Hematopoietic stem cell transplantation in a CD3γ-deficient infant with inflammatory bowel disease

(2008) Tuba Turul Özgür et al.   PEDIATRIC TRANSPLANTATION

Mutations in NALP12 cause hereditary periodic fever syndromes

(2008) I. Jeru et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA