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.
Subject(s)
Forkhead Transcription Factors , Genetic Diseases, X-Linked , T-Lymphocytes, Regulatory , Humans , Turkey , Male , Child, Preschool , Forkhead Transcription Factors/genetics , Forkhead Transcription Factors/metabolism , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/immunology , Genetic Diseases, X-Linked/therapy , T-Lymphocytes, Regulatory/immunology , Infant , Female , Child , Diabetes Mellitus, Type 1/immunology , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/genetics , Diabetes Mellitus, Type 1/congenital , Immune System Diseases/diagnosis , Immune System Diseases/genetics , Immune System Diseases/therapy , Immune System Diseases/congenital , Autoimmunity , Adolescent , DiarrheaABSTRACT
Pott's puffy tumor is a rare and serious complication of frontal sinusitis, characterized by the development of osteomyelitis and subperiostal abscess in the frontal bone. Paranasal sinus osteomas are benign osteoblastic tumors, usually seen in the 3rd and 4th decades of life. In this report, we present a case of Pott's puffy tumor due to frontal sinus osteoma in an adolescent male patient. In the literature, we found no similar case in the pediatric age group and we wanted to emphasize the development of Pott's tumor as a rare complication of chronic or recurrent sinusitis and draw attention to the fact that paranasal sinus osteomas may be the underlying cause.