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

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Author information

Affiliations

  • 1. Faculty of Medicine, Department of Pediatric Allergy and Immunology, Istanbul Medeniyet University, Istanbul, Turkey.
      Authors
    • Bekis Bozkurt H 1
    • Kasap N 1
    • Bal Cetinkaya F 1
    • Arga M 1
    • Cavkaytar O 1
    (5 authors)
  • 2. Faculty of Medicine, Department of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
      Authors
    • Bayram Catak F 2
    • Yalcin Gungoren E 2
    • Yorgun Altunbas M 2
    • Catak MC 2
    • Can S 2
    • Amirov R 2
    • Bozkurt S 2
    • Ozturk N 2
    • Bilgic Eltan S 2
    • Karakoc-Aydiner E 2
    • Ozen A 2
    • Baris S 2
    (12 authors)
  • 3. Faculty of Medicine, Selcuk University, Konya, Turkey.
      Authors
    • Sahin A 3
    (1 author)
  • 4. Faculty of Medicine, Department of Pediatric Allergy and Immunology, Istanbul University-Cerrahpasa, Istanbul, Turkey.
      Authors
    • Gemici Karaarslan B 4
    • Kiykim A 4
    (2 authors)
  • 5. Faculty of Medicine, Department of Pediatric Allergy and Immunology, Karadeniz Technical University, Trabzon, Turkey.
      Authors
    • Yakici N 5
    • Orhan F 5
    (2 authors)

ORCIDs linked to this article

Journal of Clinical Immunology, 16 Sep 2024, 45(1):9
https://doi.org/10.1007/s10875-024-01791-w PMID: 39283523 

Abstract 

Purpose

Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate diagnosis and management of IPEX. We sought to present clinical, genetic, and immunological assessments of 12 IPEX patients with long-term follow-up to facilitate the diagnosis and management of the disease.

Methods

Clinical findings and treatment options of the patients were collected over time. Lymphocyte subpopulations, protein expressions, regulatory T (Treg) and circulating T follicular helper (cTFH) cells, and T-cell proliferation were analyzed.

Results

Predominant presentations included autoimmunity (91.6%), failure to thrive (66.7%), and eczema (58.3%). There were four classical and eight atypical IPEX individuals. Allergic manifestations were more common in atypical patients. Notably, chronic diarrhea demonstrated heightened severity compared to other manifestations. Four patients (33.3%) demonstrated eosinophilia, and nine (75%) showed high serum IgE levels. Most patients exhibited normal percentages of Treg cells with reduced CD25, FOXP3, and CTLA-4 expressions, corrected after hematopoietic stem cell transplantation (HSCT). Compared to healthy controls, the TH2-like skewing accompanied by reduced TH17-like responses was observed in cTFH and Treg cells of patients. Overall, nine patients (75%) received immunosuppressants (ISs), and six (50%) underwent HSCT, which was the only treatment revealing sustained control. Sirolimus was used in six patients and showed better control than other ISs.

Conclusions

The first cohort from Turkey with long-term follow-up results, comparing typical and atypical cases, provides insights into the outcomes of different therapeutic modalities and T- cell subtype changes in IPEX syndrome.

Full text links 

Read article at publisher's site: https://doi.org/10.1007/s10875-024-01791-w

References 

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Funding 

Funders who supported this work.

Marmara University Scientific Research Project Coordination Unit (1)