Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?
Abstract | Introduction: The Forkhead box protein P3 (FOXP3) is a transcription factor central to the function of regulatory T cells (Treg). Mutations in the FOXP3 gene lead to a systemic disease called immune dysregulation, polyendocrinopathy, and enteropathy, an X-linked syndrome (IPEX) characterized by the triad of early-onset intractable diarrhea, type 1 diabetes, and eczema. An atypical presentation of IPEX has been reported. Method: We report rare cases with equivocal clinical associations that included inflammatory, kidney, and hematologic involvements screened with massively parallel sequencing techniques. Results: Conclusion: Two atypical associations of functional mutations of FOXP3 that include ALPS and IgG4 RKD are described. Membranous nephropathy leading to renal failure completed in both cases the clinical phenotypes that should be included in the clinical panorama of FOXP3 failure.
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Authors | Micaela Gentile, Maurizio Miano, Paola Terranova, Stefano Giardino, Maura Faraci, Filomena Pierri, Enrico Drago, Daniela Verzola, Gianmarco Ghiggeri, Enrico Verrina, Andrea Angeletti, Barbara Cafferata, Alice Grossi, Isabella Ceccherini, Gianluca Caridi, Francesca Lugani, Lorenzo Nescis, Enrico Fiaccadori, Luca Lanino, Daniela Fenoglio, Edoardo La Porta |
Journal | Frontiers in immunology
(Front Immunol)
Vol. 13
Pg. 854749
( 2022)
ISSN: 1664-3224 [Electronic] Switzerland |
PMID | 35479070
(Publication Type: Case Reports)
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Copyright | Copyright © 2022 Gentile, Miano, Terranova, Giardino, Faraci, Pierri, Drago, Verzola, Ghiggeri, Verrina, Angeletti, Cafferata, Grossi, Ceccherini, Caridi, Lugani, Nescis, Fiaccadori, Lanino, Fenoglio and La Porta. |
Chemical References |
- FOXP3 protein, human
- Forkhead Transcription Factors
- Immunoglobulin G
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Topics |
- Autoimmune Diseases
- Child, Preschool
- Female
- Forkhead Transcription Factors
(metabolism)
- Genetic Diseases, X-Linked
(diagnosis, genetics)
- Glomerulonephritis, Membranous
- Humans
- Immunoglobulin G
(genetics)
- Male
- Mutation
- T-Lymphocytes, Regulatory
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