Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

Mendelian susceptibility to mycobacterial disease: recent discoveries

(2020) Jacinta Bustamante   HUMAN GENETICS

Inherited human IFN-γ deficiency underlies mycobacterial disease

(2020) Gaspard Kerner et al.   JOURNAL OF CLINICAL INVESTIGATION

Generation of a Broadly Useful Model for COVID-19 Pathogenesis, Vaccination, and Treatment

(2020) Jing Sun et al.   CELL

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like Hyperinflammation

(2020) Daniel F.R. Boehmer et al.   Journal of Allergy and Clinical Immunology-In Practice

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

(2020) Qian Zhang et al.   SCIENCE

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

(2020) Paul Bastard et al.   JOURNAL OF CLINICAL INVESTIGATION

Impaired control of multiple viral infections in a family with complete IRF9 deficiency

(2019) María Bravo García-Morato et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis

(2019) Mohammed F. Alosaimi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

(2019) Laura Pöyhönen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Severe influenza pneumonitis in children with inherited TLR3 deficiency

(2019) Hye Kyung Lim et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

(2019) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Candidiasis associated with very early onset inflammatory bowel disease: First IL10RB deficient case from the National Iranian Registry and review of the literature

(2019) Reza Yazdani et al.   CLINICAL IMMUNOLOGY

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism

(2019) Shen-Ying Zhang et al.   CURRENT OPINION IN IMMUNOLOGY

Varicella Virus Vaccine Live: A 22-Year Review of Postmarketing Safety Data

(2019) Meredith Woodward et al.   Open Forum Infectious Diseases

A New Patient with Inherited TYK2 Deficiency

(2019) Shokouh Azam Sarrafzadeh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2018) Ana Esteve-Solé et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

CD4 T cell–restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency

(2018) Aaruni Khanolkar et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Successful Brincidofovir Treatment of Metagenomics-Detected Adenovirus Infection in a Severely Ill STAT1-Deficient Patient

(2018) Diana Averbuch et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

(2018) Jérémie Rosain et al.   IMMUNOLOGY AND CELL BIOLOGY

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

(2018) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

(2018) Stéphanie Humblet-Baron et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A novel kindred with inherited STAT2 deficiency and severe viral illness

(2017) Leen Moens et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency

(2017) Samuele Naviglio et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

(2017) Rodrigo Hoyos-Bachiloglu et al.   JOURNAL OF CLINICAL INVESTIGATION

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

(2017) Aidé Tamara Staines-Boone et al.   Frontiers in Pediatrics

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

(2016) Hamoud Al-Mousa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hemophagocytic Lymphohistiocytosis as a Complication in Patients with MSMD

(2016) Rodolfo Muriel-Vizcaino et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

(2016) Davide Eletto et al.   Nature Communications

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature

(2016) Charlotte Burns et al.   Journal of Allergy and Clinical Immunology-In Practice

The JAK-STAT Pathway: Impact on Human Disease and Therapeutic Intervention

(2015) John J. O'Shea et al.   Annual Review of Medicine

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

(2015) Bianca Tesi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

Human IFNAR2 deficiency: Lessons for antiviral immunity

(2015) Christopher J. A. Duncan et al.   Science Translational Medicine

A Toddler With Rash, Encephalopathy, and Hemolytic Anemia

(2015) C. Smith et al.   Journal of the Pediatric Infectious Diseases Society

Interferon-Stimulated Genes: A Complex Web of Host Defenses

(2014) William M. Schneider et al.   Annual Review of Immunology

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations inIL7Rdetected by tandem whole exome sequencing and chromosomal microarray

(2014) D. K. Bayer et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Vaccine strain varicella-zoster virus–induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency

(2014) Angela Sabry et al.   JOURNAL OF ALLERGY AND CLINICAL 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

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

(2013) O. Hirata et al.   HAEMATOLOGICA

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

Fatal varicella due to the vaccine-strain varicella-zoster virus

(2013) Jessica Leung et al.   Human Vaccines & Immunotherapeutics

IL-10 and IL-10 receptor defects in humans

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

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN IMMUNOLOGY

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

(2011) D. Vairo et al.   BLOOD

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

(2011) Ithaisa Sologuren et al.   HUMAN MOLECULAR GENETICS

Disseminated Varicella Infection Caused by Varicella Vaccine Strain in a Child With Low Invariant Natural Killer T Cells and Diminished CD1d Expression

(2011) Tatjana Banovic et al.   JOURNAL OF INFECTIOUS DISEASES

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

(2010) X.-F. Kong et al.   BLOOD

Novel STAT1 Alleles in a Patient with Impaired Resistance to Mycobacteria

(2010) Ines Ackerl Kristensen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1

(2010) Diana Averbuch et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

A partial form of recessive STAT1 deficiency in humans

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

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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

Herpes Zoster with Skin Lesions and Meningitis Caused by 2 Different Genotypes of the Oka Varicella‐Zoster Virus Vaccine

(2008) Myron J. Levin et al.   JOURNAL OF INFECTIOUS DISEASES

The Safety Profile of Varicella Vaccine: A 10‐Year Review

(2008) Susan A. Galea et al.   JOURNAL OF INFECTIOUS DISEASES