Associated Papers
Targeting PTPN13 with 11-amino-acid peptides of C-terminal APC prevents immune evasion of colorectal cancer.
Ma WH et al.
Cell Research, 2026
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Buddingh EP et al.
Journal of Human Immunity, 2025
Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiency.
Staines-Boone AT et al.
Journal of Human Immunity, 2025
Monoallelic expression in human immune cells: linking genotype to phenotype.
Hammarström L et al.
Trends in Immunology, 2025
A Novel Gene DUSP8 Missense Mutation Causes Nonsyndromic Hereditary Gingival Fibromatosis by Dysregulating Lysine Lactylation.
Liu X et al.
Journal of Periodontal Research, 2025
Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.
de Oliveira Rekowski LL et al.
The American Journal of Tropical Medicine and Hygiene, 2025
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O et al.
Nature, 2025
The T385M STAT1 gain-of-function mutation confers the most severe disease outcomes.
Torrance R et al.
Frontiers in Immunology, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia
Fernandes Pineda M et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
STAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders.
Olbrich P et al.
Current Opinion in Allergy and Clinical Immunology, 2024
A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases.
Tello HG et al.
Journal of Clinical Immunology, 2024
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
Lei WT et al.
Journal of Clinical Immunology, 2024
Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.
Martin E et al.
Nature, 2024
Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Asano T et al.
Immunological Reviews, 2024
Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis.
Lim QY et al.
Frontiers in Immunology, 2024
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
Staines-Boone AT et al.
Journal of Clinical Immunology, 2023
A novel interface between the N-terminal and coiled-coil domain of STAT1 functions in an auto-inhibitory manner.
Remling L et al.
Cell Communication and Signaling : Ccs, 2023
Dysregulated IFN-γ signals promote autoimmunity in STAT1 gain-of-function syndrome.
Largent AD et al.
Science Translational Medicine, 2023
Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.
Ruan P et al.
Pediatric Blood & Cancer, 2023
Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.
Wang X et al.
Mycopathologia, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Philippot Q et al.
Science Immunology, 2023
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
Ono R et al.
Journal of Clinical Immunology, 2023
Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity.
Delavari S et al.
Cancers, 2023
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.
Scott O et al.
Frontiers in Immunology, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.
Wang L et al.
Mycopathologia, 2022
Human variation in population-wide gene expression data predicts gene perturbation phenotype.
Bonaguro L et al.
Iscience, 2022
Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.
Chen X et al.
Journal of Clinical Immunology, 2022
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Deyà-Martínez A et al.
Journal of Clinical Immunology, 2022
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP et al.
Indian Journal of Pediatrics, 2022
DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Scott O et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Gain-of-function STAT1 mutation and visceral leishmaniasis.
Lyra PT et al.
Einstein (sao Paulo, Brazil), 2022
Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.
Liu L et al.
Frontiers in Cellular and Infection Microbiology, 2022
Single-cell RNA sequencing combined with whole exome sequencing reveals the landscape of the immune pathogenic response to chronic mucocutaneous candidiasis with STAT1 GOF mutation.
Lu X et al.
Frontiers in Immunology, 2022
Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report.
Liu L et al.
Frontiers in Pediatrics, 2022
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N et al.
Journal of Clinical Immunology, 2021
Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.
Shamriz O et al.
Clinical and Experimental Immunology, 2021
STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.
Scott O et al.
Npj Genomic Medicine, 2021
Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis.
Ostadi V et al.
Medical Mycology, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 2021
Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.
Giovannozzi S et al.
Frontiers in Immunology, 2021
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 2021