Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.

When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.

Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.

A novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.

Decreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.

CARD9 Mutations in Patients with Invasive Fungal Infections.

The T385M STAT1 gain-of-function mutation confers the most severe disease outcomes.

IL-17-mediated antifungal immunity restricts Candida albicans pathogenicity in the oral cavity.

Systematic and proactive evaluation of AIRE missense variant effects.

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.

The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.

Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.

Case Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.

Abundant Yet Aberrant T Helper Cell Responses to Candida albicans Underlie Mucosal Candidiasis in Humans and Mice.

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.

Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.

Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.

A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.

Refractory mediastinal pyogenic lymphadenitis in a patient with chronic mucocutaneous candidiasis.

Clinical manifestations and treatment of STAT-1 gain-of-function: A single-center experience from India.

Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis.

A Rare Case of Refractory Epilepsy Associated With Brain Calcifications and Mucocutaneous Candidiasis.

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.

Pernicious Anemia in a Pediatric Patient With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

Amyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis.

Autoimmune hyperglycemia: beyond type 1 diabetes.

Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review.

Deciphering the role of IL17RA in psoriasis and chronic mucocutaneous candidiasis: shared pathways and distinct manifestations.

Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function.

Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.

Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.

STAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders.

A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases.

Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy.

Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.

Reduction in mucosal-associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN-γ concentration.

Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome.

STAT1 Gain-of-Function Mutation in Chronic Mucocutaneous Candidiasis.

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.

Clinical and Biological Perspectives on Noncanonical Esophageal Squamous Cell Carcinoma in Rare Subtypes.

Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.

An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS-1)-A case report.

Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.

Chinese Chronic Mucocutaneous Candidiasis: A Case Report Series.

A novel mutation site in STAT in a chronic mucocutaneous candidiasis pediatric patient with disseminated cryptococcosis: Case report and review of the literature.

Long-term remission of candidiasis with fermented lingonberry mouth rinse in an adult patient with APECED.

Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.

Chronic Mucocutaneous Candidiasis Due to STAT1 Gene Variant.

Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.

Early recognition of the APECED rash can accelerate the diagnosis of APECED.

Patients with recurrent vulvovaginal candidiasis exhibit a decrease in both the fungicidal activity of neutrophils and the proliferation of peripheral blood mononuclear cells.

Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.

Mucocutaneous Candidiasis: Insights Into the Diagnosis and Treatment.

CARD9 mutations in patients with fungal infections: An update from the last 5 years.

Isolated Cutaneous Granuloma Caused by Candida Parapsilosis: Case Report and Literature Review.

Increased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1.

Progress in molecular diagnosis and treatment of chronic mucocutaneous candidiasis.

Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review.

Novel STAT1 mutation in a paediatric case of chronic mucocutaneous candidiasis complicated by primary hypothyroidism: clinical presentation, genetic analysis and prognostic implications.

Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrine Syndrome Type 1: A Case Report and Review of the Literature.

Innate Error Immunities of the Th17 Immune Pathway Associated With Chronic Mucocutaneous Candidiasis: A Systematic Review.

Concurrent infection of Exophiala dermatitidis and Angiostrongylus cantonensis in central nervous system of a child with inherited CARD9 deficiency: A case report and literature review.

Mendelian susceptibility to mycobacterial diseases: State of the puzzle.

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.

Cutaneous Mucormycosis and Fusariosis in a Chinese Woman with CARD9 Deficiency.

STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.

Lymphadenitis caused by Purpureocillium lilacinum in a patient with CARD9 deficiency.

CARD9 deficiency aggravated nonalcoholic steatohepatitis in mice through increasing inflammatory response.

Anticytokine Autoantibodies and Fungal Infections.

Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy.

Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.

Chronic mucocutaneous candidiasis due to STAT1 gene mutation.

Knowledge mapping of COVID-19 and autoimmune diseases: a visual and bibliometric analysis.

Chronic mucocutaneous candidiasis presenting as refractory fissured tongue in a patient with IL-17RC mutation: the first reported case of Chinese ethnicity.

Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition.

A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections.

Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient.

Case for diagnosis. Disseminated erythematous and scaly plaques: chronic mucocutaneous candidiasis.

Quality of life in women with chronic recurrent vulvovaginal candidosis: A sub-analysis of the prospective multicentre phase IIb/III Prof-001 study.

SARS-CoV-2-induced adrenal crisis in a patient with autoimmune polyglandular syndrome type 1: case report.

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.

The Th17/IL-17 Axis and Host Defense Against Fungal Infections.

CARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport.

A Rare Case of Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management.

Case report: Myocarditis in congenital STAT1 gain-of function.

A Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I.

Unusual Talaromyces marneffei and Pneumocystis jirovecii coinfection in a child with a STAT1 mutation: A case report and literature review.

Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.

A family with interleukin-17 receptor A deficiency: a case report and review of the literature.

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.

Practical challenges for functional validation of STAT1 gain of function genetic variants.

Chronic Mucocutaneous Candidiasis: A Case Report.

Characterisation of APS-1 Experimental Models Is Crucial for Development of Novel Therapies.

Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report.

Successful application of photodynamic therapy for skin infection caused by Corynespora cassiicola in an immunosuppressed patient and literature review.

Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.

Candida albicans V132 induces trained immunity and enhances the responses triggered by the polybacterial vaccine MV140 for genitourinary tract infections.

Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome.

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.

Chronic Mucocutaneous Candidiasis in An 11-Year-Old Child - A Case Report from South India.

Aberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility.

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.

Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy.

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.

Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis.

CARD9 deficiency predisposing chromoblastomycosis: A case report and comparative transcriptome study.

Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia.

Gain-of-function STAT1 mutation and visceral leishmaniasis.

A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1.

Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.

Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report.

Main human inborn errors of immunity leading to fungal infections.

Pearls & Oy-sters: Spinal Cord Candidiasis Linked to CARD9 Deficiency Masquerading as a Longitudinally Extensive Transverse Myelitis.

AIRE gene mutation predisposing chronic mucocutaneous candidiasis and pigmented retinitis in two kids from a Chinese family.

Efficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis.

Utility of ruxolitinib in a patient with chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation.

Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.

Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review.

CARD9 Deficiency in Combination with Invasive Infection by Exophiala Dermatitidis in a Pediatric Patient.

A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.

Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.

Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.

A mycobacterium fortuitum infection in chronic mucocutaneous candidiasis.

Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient - A Case Report.

Oral manifestations of autoimmune polyglandular syndrome type 1.

CARD9 Regulation and its Role in Cardiovascular Diseases.

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.

Mucocutaneous and cutaneous generalized candidiasis in a thymectomized dog.

Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.

[Chronic mucocutaneous candidiasis].

IL-17 serum level in patients with chronic mucocutaneous candidiasis disease.

Anticytokine autoantibodies: Autoimmunity trespassing on antimicrobial immunity.

Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association.

Chronic tongue pain and alopecia.

Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair.

Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

Regulation of IL-17A-Producing Cells in Skin Inflammatory Disorders.

Recurrent Candida-Associated Esophageal Strictures in an Immunocompetent Patient.

[Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia. A case report].

Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation.

Infections in the monogenic autoimmune syndrome APECED.

Defects of the Innate Immune System and Related Immune Deficiencies.

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.

Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.

Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.

Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion.

The potential role for topical imiquimod in the treatment of chronic mucocutaneous candidiasis caused by gain-of-function mutation in STAT1: A case-report.

Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.

Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED.

Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.

Chronic mucocutaneous candidiasis associated with paracoccidioidomycosis in a patient with mannose receptor deficiency: First case reported in the literature.

Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.

Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.

Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.

An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.

Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.

Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.

Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings.

Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1.

STAT 1 mutation associated with chronic mucocutaneous candidiasis and pancytopenia.

Chronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent male.

Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.

Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.

A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess.

Chronic Mucocutaneous Candidiasis in Early Life: Insights Into Immune Mechanisms and Novel Targeted Therapies.

A new case of deep dermatophytic disease with inherited CARD9 deficiency.

The pathogenic T387A missense mutation in the gene encoding signal transducer and activator of transcription 1 exhibits a differential gene expression profile.

A Case of Critical Lower-Limb Ischemia in a 29-Year-Old Man with Autoimmune Polyglandular Syndrome Type 1 (APS-1).

AAV9-mediated AIRE gene delivery clears circulating antibodies and tissue T-cell infiltration in a mouse model of autoimmune polyglandular syndrome type-1.

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.

A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.

An IL-17F.S65L Knock-In Mouse Reveals Similarities and Differences in IL-17F Function in Oral Candidiasis: A New Tool to Understand IL-17F.

Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.

APECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort.

Biological and clinical significance of T helper 17 cell deficiency: insight into monogenic defects.