The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

(2019) Sarah Spencer et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

(2018) Maxime Cadieux-Dion et al.   BMC Medical Genetics

IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation

(2018) Kunihiko Moriya et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4–Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma

(2018) B Gokturk et al.   JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY

Human hyper-IgE syndrome: singular or plural?

(2018) Qian Zhang et al.   MAMMALIAN GENOME

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

(2018) Alexandre Bolze et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis

(2018) Tamar S. Rubin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

(2018) Bertrand Boisson et al.   JOURNAL OF CLINICAL INVESTIGATION

Gain-of-function IKBKB mutation causes human combined immune deficiency

(2018) Chelisa Cardinez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

(2017) Bertrand Boisson et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

(2017) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

(2017) Tobias Schwerd et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

(2017) Martin Krenn et al.   JOURNAL OF NEUROLOGY

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

(2017) Erika Della Mina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

(2017) Karina Gobin et al.   Frontiers in Pediatrics

IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae

(2016) Serge Grazioli et al.   CLINICAL IMMUNOLOGY

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis

(2016) Giuliana Giardino et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency

(2016) Hidetoshi Takada et al.   MEDICINE

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

(2016) Romain Lévy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders

(2015) Elizabeth J. Leslie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Staphylococcus aureus Infections: Epidemiology, Pathophysiology, Clinical Manifestations, and Management

(2015) Steven Y. C. Tong et al.   CLINICAL MICROBIOLOGY REVIEWS

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling

(2015) M Paciolla et al.   GENES AND IMMUNITY

PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome

(2015) Glynis Frans et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

(2015) Bertrand Boisson et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

(2015) Yun Ling et al.   JOURNAL OF EXPERIMENTAL MEDICINE

RecurrentStaphylococcus aureusabscess and fatal pneumococcal septicemia due to IRAK-4 deficiency

(2015) Koichi Shichijo et al.   PEDIATRICS INTERNATIONAL

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

(2014) P. J. Maglione et al.   BLOOD

A nonsense mutation in IKBKB causes combined immunodeficiency

(2014) T. Mousallem et al.   BLOOD

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

(2014) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immunodeficiency Associated with a Nonsense Mutation of IKBKB

(2014) Christian Nielsen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

(2013) Johanna Nilsson et al.   ANNALS OF NEUROLOGY

Neutrophils Versus Staphylococcus aureus: A Biological Tug of War

(2013) András N. Spaan et al.   Annual Review of Microbiology

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

(2013) Bertrand Boisson et al.   IMMUNITY

Staphylococcus aureus: Determinants of human carriage

(2013) J.U.E. Sollid et al.   INFECTION GENETICS AND EVOLUTION

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

(2013) A. Bolze et al.   SCIENCE

Cytoplasmic LPS Activates Caspase-11: Implications in TLR4-Independent Endotoxic Shock

(2013) J. A. Hagar et al.   SCIENCE

Noncanonical Inflammasome Activation by Intracellular LPS Independent of TLR4

(2013) N. Kayagaki et al.   SCIENCE

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

(2013) Kai Wang et al.   Genome Medicine

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

(2012) S. Weller et al.   BLOOD

NF- B, the first quarter-century: remarkable progress and outstanding questions

(2012) M. S. Hayden et al.   GENES & DEVELOPMENT

The role of the Panton-Valentine leucocidin toxin in staphylococcal disease: a systematic review and meta-analysis

(2012) Laura J Shallcross et al.   LANCET INFECTIOUS DISEASES

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Diverse ubiquitin signaling in NF-κB activation

(2012) Kazuhiro Iwai   TRENDS IN CELL BIOLOGY

Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

(2011) Pekka Nieminen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

(2010) Anne Puel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

(2010) Kai Kisand et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Internalization and Coreceptor Expression Are Critical for TLR2-Mediated Recognition of Lipoteichoic Acid in Human Peripheral Blood

(2010) S. Bunk et al.   JOURNAL OF IMMUNOLOGY

Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases

(2010) Nizar Mahlaoui et al.   JOURNAL OF PEDIATRICS

Community-associated meticillin-resistant Staphylococcus aureus

(2010) Frank R DeLeo et al.   LANCET

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

(2010) Capucine Picard et al.   MEDICINE

MutantCHUKand Severe Fetal Encasement Malformation

(2010) Jenni Lahtela et al.   NEW ENGLAND JOURNAL OF MEDICINE

Emergence of community-acquired meticillin-resistant Staphylococcus aureus strain USA300 as a cause of necrotising community-onset pneumonia

(2009) Alicia I Hidron et al.   LANCET INFECTIOUS DISEASES

Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation

(2009) Lena Svensson et al.   NATURE MEDICINE

Soluble CD36 Ectodomain Binds Negatively Charged Diacylglycerol Ligands and Acts as a Co-Receptor for TLR2

(2009) Maximiliano J. Jimenez-Dalmaroni et al.   PLoS One

Genetic and molecular diagnosis of severe congenital neutropenia

(2008) Alister C Ward et al.   CURRENT OPINION IN HEMATOLOGY

Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3

(2008) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE