ArticleJournal of clinical immunology2014
Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation.
Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.Journal of clinical immunology · 2023Pooled it
- Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Journal of clinical immunology · 2025Article
- Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.Journal of clinical immunology · 2024Article
- Probiotic-Derived Ecto-5'-Nucleotidase Produces Anti-Inflammatory Adenosine Metabolites in Treg-Deficient Scurfy Mice.Probiotics and antimicrobial proteins · 2023Article
- Probiotic-derived ecto-5'-nucleotidase produces anti-inflammatory adenosine metabolites in Treg-deficient scurfy mice.Research square · 2023Article
- Autoimmune hepatitis in genetic syndromes: A literature review.World journal of hepatology · 2021Review
- Primary Immune Regulatory Disorders and Targeted TherapiesTurkish journal of haematology : official journal of Turkish Society of Haematology · 2021Review
- IPEX Syndrome: Improved Knowledge of Immune Pathogenesis Empowers Diagnosis.Frontiers in pediatrics · 2021Review
- Atypical Presentations of IPEX: Expect the Unexpected.Frontiers in pediatrics · 2021Review
- IPEX as a Consequence of Alternatively Spliced FOXP3.Frontiers in pediatrics · 2020Review
- Antibiotic-modulated microbiome suppresses lethal inflammation and prolongs lifespan in Treg-deficient mice.Microbiome · 2019Article
- Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation ofFrontiers in pediatrics · 2019Article
- Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.European journal of pediatrics · 2018Article
- Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.Frontiers in immunology · 2018Article
- DOCK8 Deficiency Presenting as an IPEX-Like Disorder.Journal of clinical immunology · 2017Article
- Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.American journal of medical genetics. Part A · 2017Article
- Adenosine AFrontiers in immunology · 2017Article
- Resetting microbiota by Lactobacillus reuteri inhibits T reg deficiency-induced autoimmunity via adenosine A2A receptors.The Journal of experimental medicine · 2017Article
- The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.Turk pediatri arsivi · 2016Article
- Regulatory T cells and minimal change nephropathy: in the midst of a complex network.Clinical and experimental immunology · 2016Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIPEX (Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare X-linked recessive life-threatening disorder characterized by autoimmunity and early death. Pulmonary complication related with IPEX has not been elucidated exactly. Here, we report 4 IPEX patients, 3 of which died from severe pulmonary disease.
methodsClinical data and laboratory findings including autoantibodies, immunoglobulin levels as well as number of T, B and NK cells were evaluated. FOXP3 expression and T reg activity were analyzed. The FOXP3 gene was sequenced and RNA analysis was performed.
resultsPatient I (PI) presented with nephrotic syndrome at 3 years of age and then developed autoimmune hepatitis without eczema, enteropathy or high IgE and died at 9 years of age due to acute respiratory distress syndrome (ARDS). Two cousins of PI had the same hypomorphic splice site mutation leading to a deletion of 27 amino acids, but normal FOXP3 protein expression and normal suppressive capacity of T reg in a proliferation inhibition assay. However, they exhibited typical symptoms such as eczema, diabetes and enteropathy with eosinophilia at early age (PII, PIII) and were transplanted in infancy. One of them had severe respiratory distress right after birth (PIII). Patient IV from another family presented with chronic diarrhea without autoimmune manifestations and died due to ARDS.
conclusionLung disease related to IPEX syndrome has not been reported before and this entity could be a critical factor in disease outcome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.