Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

Use of QuantiFERON-TB Gold In-tube assay in screening for neutralizing anti-interferon-γ autoantibodies in patients with disseminated nontuberculous mycobacterial infection

(2018) U.-I. Wu et al.   CLINICAL MICROBIOLOGY AND INFECTION

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants

(2017) Reiko Kagawa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Pattern recognition receptors and coordinated cellular pathways involved in tuberculosis immunopathogenesis: Emerging concepts and perspectives

(2017) Abhishek Mishra et al.   MOLECULAR IMMUNOLOGY

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency

(2017) Sabah Boudjemaa et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Canonical and Non-Canonical Aspects of JAK–STAT Signaling: Lessons from Interferons for Cytokine Responses

(2017) Andrea Majoros et al.   Frontiers in Immunology

‘”Why me, why now?” Using clinical immunology and epidemiology to explain who gets nontuberculous mycobacterial infection

(2016) M. Alexandra Lake et al.   BMC Medicine

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

(2016) Francesca Conti et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Successful hematopoietic stem cell transplantation for myelofibrosis in an adult with warts-hypogammaglobulinemia-immunodeficiency-myelokathexis syndrome

(2016) Leen Moens et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

(2016) Nima Parvaneh et al.   PEDIATRIC BLOOD & CANCER

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

(2016) Davide Eletto et al.   Nature Communications

Interleukin-12: Functional activities and implications for disease

(2015) Sebastian Zundler et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

(2015) Stéphanie Boisson-Dupuis et al.   IMMUNOLOGICAL REVIEWS

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

(2015) Francesca Conti et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Late-Onset Disseminated Mycobacterium avium intracellulare Complex Infection (MAC), Cerebral Toxoplasmosis and Salmonella Sepsis in a German Caucasian Patient with Unusual Anti-Interferon-Gamma IgG1 Autoantibodies

(2015) Leif G. Hanitsch et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Diagnostic and therapeutic challenges in a child with complete Interferon-γ Receptor 1 deficiency

(2015) Peter Olbrich et al.   PEDIATRIC BLOOD & CANCER

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

Increased risk of mycobacterial infections associated with anti-rheumatic medications

(2015) S. K. Brode et al.   THORAX

Augmentation of antitubercular therapy with IFNγ in a patient with dominant partial IFNγ receptor 1 deficiency

(2014) Kanako Takeda et al.   CLINICAL IMMUNOLOGY

Host Response to Nontuberculous Mycobacterial Infections of Current Clinical Importance

(2014) Ian M. Orme et al.   INFECTION AND IMMUNITY

Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency

(2014) Rubén Martínez-Barricarte et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

(2014) Laia Alsina et al.   NATURE IMMUNOLOGY

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Partial IFN- R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

(2013) M. Moncada-Velez et al.   BLOOD

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset

(2013) E. M. Mace et al.   BLOOD

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

(2013) M. A. Spinner et al.   BLOOD

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

(2013) O. Hirata et al.   HAEMATOLOGICA

IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database

(2013) Esther van de Vosse et al.   HUMAN MUTATION

Innate Defects of the IL-12/IFN-γ Axis in Susceptibility to Infections by Mycobacteria and Salmonella

(2013) Noé Ramirez-Alejo et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Critical Pulmonary Infection Due to Nontuberculous Mycobacterium in Pediatric Leukemia

(2013) Annalisa Arlotta et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent With Inherited STAT1 Deficiency

(2013) Oded Shamriz et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

STAT2 deficiency and susceptibility to viral illness in humans

(2013) S. Hambleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Anti-IFN-  autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection

(2012) C.-Y. Chi et al.   BLOOD

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

(2012) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

(2012) Miyuki Tsumura et al.   HUMAN MUTATION

Inborn Errors of Human JAKs and STATs

(2012) Jean-Laurent Casanova et al.   IMMUNITY

Patients with inhibitory and neutralizing auto-antibodies to interferon-γ resemble the sporadic adult-onset phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) lacking Bacille Calmette–Guerin (BCG)-induced diseases

(2012) Wen-I. Lee et al.   IMMUNOBIOLOGY

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

(2012) Elizabeth P. Sampaio et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency

(2012) Sara Sebnem Kilic et al.   JOURNAL OF INFECTION

Two cases of partial dominant interferon-γ receptor 1 deficiency that presented with different clinical courses of bacille Calmette–Guérin multiple osteomyelitis

(2012) Kaoru Obinata et al.   JOURNAL OF INFECTION AND CHEMOTHERAPY

Adult-Onset Immunodeficiency in Thailand and Taiwan

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

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

Severe impairment of IFN-  and IFN-  responses in cells of a patient with a novel STAT1 splicing mutation

(2011) D. Vairo et al.   BLOOD

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

(2011) A. P. Hsu et al.   BLOOD

Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness

(2011) R A de Paus et al.   GENES AND IMMUNITY

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

(2011) Ithaisa Sologuren et al.   HUMAN MOLECULAR GENETICS

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases

(2011) Hui-Qi Qu et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

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

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

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

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

(2011) Stéphanie Boisson-Dupuis et al.   PLoS One

The BCG World Atlas: A Database of Global BCG Vaccination Policies and Practices

(2011) Alice Zwerling et al.   PLOS MEDICINE

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency

(2010) Carolina Prando et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

(2010) X.-F. Kong et al.   BLOOD

Mendelian susceptibility to mycobacterial disease

(2010) LE Cottle   CLINICAL GENETICS

Bacille Calmette–Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families

(2010) Sigifredo Pedraza-Sánchez et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

(2009) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

A partial form of recessive STAT1 deficiency in humans

(2009) Ariane Chapgier et al.   JOURNAL OF CLINICAL INVESTIGATION

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor β1 deficiency and ataxia-telangiectasia

(2008) Mohammad Ehlayel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IFN-γ Mediates the Rejection of Haematopoietic Stem Cells in IFN-γR1-Deficient Hosts

(2008) Martin Rottman et al.   PLOS MEDICINE