{"id":46477,"date":"2025-10-21T12:00:00","date_gmt":"2025-10-21T10:00:00","guid":{"rendered":"https:\/\/inmuno.es\/index.php\/2025\/10\/21\/beyond-the-classical-triad-atypical-presentations-and-regulatory-t-cell-phenotyping-in-a-cohort-of-ipex-patients\/"},"modified":"2025-10-21T12:00:00","modified_gmt":"2025-10-21T10:00:00","slug":"beyond-the-classical-triad-atypical-presentations-and-regulatory-t-cell-phenotyping-in-a-cohort-of-ipex-patients","status":"publish","type":"post","link":"https:\/\/inmuno.es\/index.php\/2025\/10\/21\/beyond-the-classical-triad-atypical-presentations-and-regulatory-t-cell-phenotyping-in-a-cohort-of-ipex-patients\/","title":{"rendered":"Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients"},"content":{"rendered":"
\n

J Clin Immunol<\/b>. 2025 Oct 21;45(1):148. doi: 10.1007\/s10875-025-01934-7.<\/p>\n

ABSTRACT<\/b><\/p>\n

BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX) syndrome caused by FOXP3 mutations is rare. FOXP3 is a transcription factor required for the regulatory T cell (Treg) development\/function.<\/p>\n

AIM: We aimed to characterize the clinical, immunologic, and genetic features of a single-center cohort of IPEX syndrome.<\/p>\n

PATIENTS AND METHODS: We present the clinical\/immunological\/genetic features of 12 patients with IPEX syndrome. We used whole exome and Sanger sequencing for the diagnosis\/familial segregation. We performed immunophenotyping and measured Treg percentage and FOXP3 expression in peripheral blood by flow cytometric analysis.<\/p>\n

RESULTS: Median age at diagnosis was 2.5 years (range: 0.3-22 years). Common clinical manifestations were infections (n = 9, 75%), allergies (n = 8, 67%), autoimmunity (n = 7, 58%), enteropathy (n = 7, 58%), and lymphoproliferation (n = 3, 25%). Atypical initial presentations included class IV lupus nephritis, a SCID-like immunophenotype (CD3+<\/sup> T cells: 4% [100\/\u00b5L]; CD4+<\/sup> T cells: 3%, CD8+<\/sup> T cells: 1%, CD19+<\/sup> B cells: 81%, CD16\/56+<\/sup> NK cells: 13%), and isolated hypogammaglobulinemia persisting for years during follow-up. At the time of diagnosis, three (25%) patients had leukopenia, six (50%) had lymphopenia and two (17%) had neutropenia. Eosinophilia was observed in 42% of patients (25% mild, 17% moderate). Six different variants in FOXP3 were characterized in 12 patients from nine unrelated families. Four (33%) patients underwent hematopoietic stem cell transplantation (HSCT). Overall, three (25%) patients died due to infections. One patient died due to HSCT-related catheter complications, one patient died in an accident. Among the transplanted patients, two are alive and well. Among the non-transplanted patients, five are alive and are being followed up at our center. Treg (CD4+<\/sup>CD127-\/low<\/sup>CD25+<\/sup>Foxp3+<\/sup>) percentage was low in eight patients compared to healthy controls (p < 0.001). FOXP3 expression was low in all the patients compared to healthy controls.<\/p>\n

CONCLUSION: Atypical presentations make the diagnosis of IPEX syndrome challenging. This study expands the current knowledge of IPEX syndrome by describing a single-center cohort with certain atypical manifestations and by confirming previously reported rare phenotypes. Elucidating the genetic basis of immunodeficiency diseases contributes to improving diagnostic approaches and patient management.<\/p>\n

PMID:41117878<\/a> | DOI:10.1007\/s10875-025-01934-7<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"

J Clin Immunol. 2025 Oct 21;45(1):148. doi: 10.1007\/s10875-025-01934-7. ABSTRACT BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked(IPEX) syndrome caused by FOXP3 mutations is rare. FOXP3 is a transcription factor required for the regulatory T cell (Treg) development\/function. AIM: We aimed to characterize the clinical, immunologic, and genetic features of a single-center cohort of IPEX syndrome. PATIENTS … Read more<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[69,42],"tags":[],"class_list":["post-46477","post","type-post","status-publish","format-standard","hentry","category-journal-of-clinical-immunology","category-publicaciones"],"_links":{"self":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/46477","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/comments?post=46477"}],"version-history":[{"count":0,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/posts\/46477\/revisions"}],"wp:attachment":[{"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/media?parent=46477"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/categories?post=46477"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/inmuno.es\/index.php\/wp-json\/wp\/v2\/tags?post=46477"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}