Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.

Neutrophils take center stage in VEXAS syndrome pathogenesis.

Decoding VEXAS syndrome: emerging insights into pathogenesis and clinical management.

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.

Interval Changes in Hematopoietic Vacuolization in VEXAS Syndrome with M41T Mutation: Insights into Diagnosis and Disease Progression.

Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndrome.

The Targets of Immune Adverse Events in Cancer Immunotherapy by Combined Check-point Inhibitors Resemble those Seen in IPEX Patients.

Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

[Immuno'logical (The scientific updates you wouldn't dare to read anywhere else): The hidden face of VEXAS syndrome].

From diagnostic uncertainty to targeted therapy: a case-based review of VEXAS syndrome.

Clonal hematopoiesis meets an autoinflammatory disease: the new paradigm of VEXAS syndrome.

Autoimmune polyendocrine syndrome type 2 in children: a case report and literature review.

Diagnostic dilemma in infantile refractory diarrhea: a rare case of IPEX syndrome.

VEXAS syndrome: is it more a matter of inflammation or hematopoietic clonality? A case series approach to diagnosis, therapeutic strategies and transplant management.

Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.

Expanding the spectrum of IPEX: from new clinical findings to novel treatments.

Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.

HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome.

A rare case of late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome confused with IgA vasculitis nephropathy.

A splice of life: the discovery, function, and clinical implications of FOXP3 isoforms in autoimmune disease.

IL-27 Gene Therapy Ameliorates IPEX Syndrome Caused by Germline Mutation of Foxp3 Gene: A Major Role for Induction of IL-10.

Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy.

Salvianolic acid B alleviates autoimmunity in Treg-deficient mice via inhibiting IL2-STAT5 signaling.

Novel premature termination codon in the FOXP3 gene as the cause of familial hydrops fetalis in males.

[Clinical features and genetic analysis of three patients with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome due to variants of FOXP3 gene].

IPEX syndrome from diagnosis to cure, learning along the way.

A novel FOXP3 knockout-humanized mouse model for pre-clinical safety and efficacy evaluation of Treg-like cell products.

FOXP3 deficiency, from the mechanisms of the disease to curative strategies.

[Hematopoietic cell transplantation for monogenic inflammatory bowel disease].

Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.

Regulatory T cells in peripheral tissue tolerance and diseases.

A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.

Case report: Dupilumab treatment improved type 2 disorders in a patient with IPEX syndrome diagnosis.

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Case Report: Eosinophilic gastritis with pyloric stenosis in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Splicing factor SRSF1 controls autoimmune-related molecular pathways in regulatory T cells distinct from FoxP3.

Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).

Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation.

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.

Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.

Towards gene therapy for IPEX syndrome.

Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.

Protein-losing enteropathy caused by Yersinia enterocolitica colitis.

Anti-voltage-Gated Potassium Channel (VGKC) Antibodies and Acquired Neuromyotonia in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy X-Lined (IPEX) Syndrome.

Generalized eczematous dermatitis and pruritus responsive to dupilumab in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Myelodysplastic Syndrome in a Patient with IPEX Syndrome.

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Manifesting as Lymphocytic Interstitial Pneumonia and Treatment-Resistant Bullous Pemphigoid.

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset.

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.

Limosilactobacillus reuteri and Lacticaseibacillus rhamnosus GG differentially affect gut microbes and metabolites in mice with Treg deficiency.

A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A case report.

[Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome].

New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.

IPEX Syndrome: Genetics and Treatment Options.

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.

Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports.

[New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome].

Fecal microbiota transplantation before hematopoietic stem cell transplantation in a pediatric case of chronic diarrhea with a FOXP3 mutation.

T cell gene therapy to treat immunodeficiency.

Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome.

Posthematopoietic stem cell transplant COVID-19 infection in a pediatric patient with IPEX syndrome.

IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom.

Fungal infections in primary immunodeficiency diseases.

Foxp3: a genetic foundation for regulatory T cell differentiation and function.

Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report.

In situ conversion of defective Treg into SuperTreg cells to treat advanced IPEX-like disorders in mice.

Infliximab induces clinical resolution of sacroiliitis that coincides with increased circulating FOXP3+ T cells in a patient with IPEX syndrome.

Pharmacological Inhibition of MALT1 Protease Leads to a Progressive IPEX-Like Pathology.

Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Unusual and early onset IPEX syndrome: a case report.

IPEX syndrome: an easily-missed diagnosis of a life threatening condition.

Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.

Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.

Antibiotic-modulated microbiome suppresses lethal inflammation and prolongs lifespan in Treg-deficient mice.

Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome.

[A case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with very early onset inflammatory bowel disease-like changes].

[Erythroderma revealing IPEX syndrome].

The autoimmune targets in IPEX are dominated by gut epithelial proteins.

Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome.

The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome.

Mechanisms of human FoxP3+ Treg cell development and function in health and disease.

The role of FOXP3+ regulatory T cells in human autoimmune and inflammatory diseases.

Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome.

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene.

A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells.

Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome.

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.

Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome.

Regulatory T-cell deficiency and autoimmune skin disease: Beyond the scurfy mouse and immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

[Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two cases].

Role of human forkhead box P3 in early thymic maturation and peripheral T-cell homeostasis.

Regulatory T-cell dysfunction induces autoantibodies to bullous pemphigoid antigens in mice and human subjects.

IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective TReg cell engraftment.

Autoimmune Polyendocrine Syndromes.

Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.

Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

DOCK8 Deficiency Presenting as an IPEX-Like Disorder.

Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation.

Curcumin attenuates the scurfy-induced immune disorder, a model of IPEX syndrome, with inhibiting Th1/Th2/Th17 responses in mice.

Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.

Analyses of a Mutant Foxp3 Allele Reveal BATF as a Critical Transcription Factor in the Differentiation and Accumulation of Tissue Regulatory T Cells.

Lichenoid Dermatitis in an Adult with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome.

Persistent Enteropathy in a Toddler with a Novel FOXP3 Mutation and Normal FOXP3 Protein Expression.

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.

Mycobacterium genavense-induced spindle cell pseudotumor in a pediatric hematopoietic stem cell transplant recipient: Case report and review of the literature.

Nonclassic Inflammatory Bowel Disease in Young Infants: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome, and Other Disorders.

Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

T Regulatory Cell Biology in Health and Disease.

From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.

Quantitative analysis of tissue inflammation and responses to treatment in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and review of literature.

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

The autoimmune conundrum in common variable immunodeficiency disorders.

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome.

[Difference in target antigens between central tolerance and peripheral tolerance deficiencies].

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death.

Long-term disease course in a patient with severe neonatal IPEX syndrome.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita.

Familial IPEX syndrome: different glomerulopathy in two siblings.