Crohn’s as an immune deficiency: from apparent paradox to evolving paradigm

Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome

(2013) Jeremiah C. Davis et al.   DISEASE MARKERS

C-reactive protein, an indicator for maintained response or remission to infliximab in patients with Crohn's disease: a post-hoc analysis from ACCENT I

(2012) W. Reinisch et al.   ALIMENTARY PHARMACOLOGY & THERAPEUTICS

Inherited defects causing hemophagocytic lymphohistiocytic syndrome

(2012) Geneviève de Saint Basile et al.   Annals of the New York Academy of Sciences

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

(2012) Jacinta Bustamante et al.   Annals of the New York Academy of Sciences

NOD2 enhances the innate response of alveolar macrophages to Mycobacterium tuberculosis in humans

(2012) Esmeralda Juárez et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

The Age of Gene Discovery in Very Early Onset Inflammatory Bowel Disease

(2012) Aleixo M. Muise et al.   GASTROENTEROLOGY

The Nucleotide Synthesis Enzyme CAD Inhibits NOD2 Antibacterial Function in Human Intestinal Epithelial Cells

(2012) Amy L. Richmond et al.   GASTROENTEROLOGY

Defective tumor necrosis factor release from Crohnʼs disease macrophages in response to toll-like receptor activation: Relationship to phenotype and genome-wide association susceptibility loci

(2012) Gavin W. Sewell et al.   INFLAMMATORY BOWEL DISEASES

Polymorphisms of NOD2 and the risk of tuberculosis: a validation study in the Chinese population

(2012) H. Pan et al.   International Journal of Immunogenetics

Investigation of False-Positive Results Given by the QuantiFERON-TB Gold In-Tube Assay

(2012) M. Slater et al.   JOURNAL OF CLINICAL MICROBIOLOGY

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

Adult-Onset Immunodeficiency in Thailand and Taiwan

(2012) Sarah K. Browne et al.   NEW ENGLAND JOURNAL OF MEDICINE

Muramyl Dipeptide Induces NOD2-Dependent Ly6Chigh Monocyte Recruitment to the Lungs and Protects Against Influenza Virus Infection

(2012) François Coulombe et al.   PLoS One

Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics

(2011) Jean-Laurent Casanova et al.   Annual Review of Immunology

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes

(2011) V. U. Ozkurede et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1

(2011) R. Goldbach-Mansky   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Common Symptoms and Stressors Among Individuals With Inflammatory Bowel Diseases

(2011) Sunny Singh et al.   Clinical Gastroenterology and Hepatology

Corticosteroid Therapy for Liver Abscess in Chronic Granulomatous Disease

(2011) J. W. Leiding et al.   CLINICAL INFECTIOUS DISEASES

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I B  Deficiency

(2011) C. Picard et al.   CLINICAL MICROBIOLOGY REVIEWS

Autophagy as an innate immunity paradigm: expanding the scope and repertoire of pattern recognition receptors

(2011) Vojo Deretic   CURRENT OPINION IN IMMUNOLOGY

Defective Leukocyte GM-CSF Receptor (CD116) Expression and Function in Inflammatory Bowel Disease

(2011) Jonathan I. Goldstein et al.   GASTROENTEROLOGY

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

Receptor-Interacting Protein 2 Controls Pulmonary Host Defense to Escherichia coli Infection via the Regulation of Interleukin-17A

(2011) Theivanthiran Balamayooran et al.   INFECTION AND IMMUNITY

"Mycobacterium tilburgii" Infection in Two Immunocompromised Children: Importance of Molecular Tools in Culture-Negative Mycobacterial Disease Diagnosis

(2011) N. G. Hartwig et al.   JOURNAL OF CLINICAL MICROBIOLOGY

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) Venetia Bigley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients

(2011) Gepke Visser et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Autophagy in immunity and inflammation

(2011) Beth Levine et al.   NATURE

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

(2011) Rosa Rademakers et al.   NATURE GENETICS

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

Genetics of monogenic autoinflammatory diseases: past successes, future challenges

(2011) Ivona Aksentijevich et al.   Nature Reviews Rheumatology

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

(2011) Slaheddine Marrakchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Corticosteroids in the Treatment of Severe Nocardia Pneumonia in Chronic Granulomatous Disease

(2011) Alexandra F. Freeman et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Inborn errors of anti-viral interferon immunity in humans

(2011) Vanessa Sancho-Shimizu et al.   Current Opinion in Virology

NOD2 controls the nature of the inflammatory response and subsequent fate of Mycobacterium tuberculosis and M. bovis BCG in human macrophages

(2010) Michelle N. Brooks et al.   CELLULAR MICROBIOLOGY

High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease

(2010) Joyce E. Yu et al.   CLINICAL IMMUNOLOGY

Complications of Tumor Necrosis Factor–α Blockade in Chronic Granulomatous Disease–Related Colitis

(2010) Gulbu Uzel et al.   CLINICAL INFECTIOUS DISEASES

The Neutrophil Respiratory Burst and Bacterial Digestion in Crohn’s Disease

(2010) Bu’Hussain Hayee et al.   DIGESTIVE DISEASES AND SCIENCES

Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations

(2010) T. Suzuki et al.   EUROPEAN RESPIRATORY JOURNAL

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

(2010) Shradha Agarwal et al.   INFLAMMATORY BOWEL DISEASES

Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease

(2010) Folke Freudenberg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Paneth's disease

(2010) Jan Wehkamp et al.   Journal of Crohns & Colitis

Common Polymorphisms in theNOD2Gene Region Are Associated with Leprosy and Its Reactive States

(2010) William Richard Berrington et al.   JOURNAL OF INFECTIOUS DISEASES

Antibodies to CBir1 Are Associated With Glycogen Storage Disease Type Ib

(2010) Michael K Davis et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

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

(2010) Andre Franke et al.   NATURE GENETICS

Residual NADPH Oxidase and Survival in Chronic Granulomatous Disease

(2010) Douglas B. Kuhns et al.   NEW ENGLAND JOURNAL OF MEDICINE

NADPH Oxidase Limits Innate Immune Responses in the Lungs in Mice

(2010) Brahm H. Segal et al.   PLoS One

Primary Immunodeficiency and Autoimmunity: Lessons From Human Diseases

(2010) G. J. Arason et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Therapy options in pulmonary alveolar proteinosis

(2010) Maurizio Luisetti et al.   Therapeutic Advances in Respiratory Disease

Update on the diagnosis and treatment of Pneumocystis pneumonia

(2010) Eva M. Carmona et al.   Therapeutic Advances in Respiratory Disease

Involvement of a functional NADPH oxidase in neutrophils and macrophages during programmed cell clearance: implications for chronic granulomatous disease

(2009) Duangmanee Sanmun et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

(2009) D. C. Vinh et al.   BLOOD

CD68 expression is markedly different in Crohnʼs disease and the colitis associated with chronic granulomatous disease

(2009) Steven Liu et al.   INFLAMMATORY BOWEL DISEASES

Chronic Inflammatory Bowel Disease as Key Manifestation of Atypical ARTEMIS Deficiency

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

Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease

(2009) Andrew M. Smith et al.   JOURNAL OF EXPERIMENTAL MEDICINE

NOD2 regulates hematopoietic cell function during graft-versus-host disease

(2009) Olaf Penack et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Increased NOD2-mediated recognition ofN-glycolyl muramyl dipeptide

(2009) François Coulombe et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry

(2009) Leonardo H Travassos et al.   NATURE IMMUNOLOGY

NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation

(2009) Rachel Cooney et al.   NATURE MEDICINE

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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

Genomewide Association Study of Leprosy

(2009) Fu-Ren Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Osteopetrosis

(2009) Zornitza Stark et al.   Orphanet Journal of Rare Diseases

NOD2 contributes to cutaneous defense against Staphylococcus aureus through  -toxin-dependent innate immune activation

(2009) P. Hruz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NOD2, RIP2 and IRF5 Play a Critical Role in the Type I Interferon Response to Mycobacterium tuberculosis

(2009) Amit K. Pandey et al.   PLoS Pathogens

Telomeres and marrow failure

(2009) R. T. Calado   Hematology-American Society of Hematology Education Program

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

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

Autoimmune manifestations in primary immune deficiencies

(2008) Guillaume Bussone et al.   AUTOIMMUNITY REVIEWS

ROS-deficient monocytes have aberrant gene expression that correlates with inflammatory disorders of chronic granulomatous disease

(2008) Kelly L. Brown et al.   CLINICAL IMMUNOLOGY

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

(2008) Saleh Al-Muhsen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Common Nonsynonymous Polymorphisms in theNOD2Gene Are Associated with Resistance or Susceptibility to Tuberculosis Disease in African Americans

(2008) Celest M. Austin et al.   JOURNAL OF INFECTIOUS DISEASES

A NOD2-NALP1 complex mediates caspase-1-dependent IL-1  secretion in response to Bacillus anthracis infection and muramyl dipeptide

(2008) L.-C. Hsu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA