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Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio
BACKGROUND: The autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective function of the FAS death receptor, which results in chronic, non-malignant lymphoproliferation and autoimmunity accompanied by elevated numbers of double-negative (DN) T cells (T-cell recepto...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366043/ https://www.ncbi.nlm.nih.gov/pubmed/35967554 http://dx.doi.org/10.3389/fped.2022.868193 |
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author | Gu, Hao Chen, Zhenping Ma, Jie Ma, Jingyao Fu, Lingling Zhang, Rui Wang, Tianyou Wu, Runhui |
author_facet | Gu, Hao Chen, Zhenping Ma, Jie Ma, Jingyao Fu, Lingling Zhang, Rui Wang, Tianyou Wu, Runhui |
author_sort | Gu, Hao |
collection | PubMed |
description | BACKGROUND: The autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective function of the FAS death receptor, which results in chronic, non-malignant lymphoproliferation and autoimmunity accompanied by elevated numbers of double-negative (DN) T cells (T-cell receptor α/β + CD4–CD8–) and an increased risk of developing malignancies later in life. CASE DESCRIPTION: Here, we report a patient with a de novo FAS mutation with a severe phenotype of ALPS-FAS. The FAS gene identified as a novel spontaneous germline heterozygous missense mutation (c.857G > A, p.G286E) in exon 9, causing an amino acid exchange and difference in hydrogen bond formation. Consequently, the treatment with sirolimus was initiated. Subsequently, the patient’s clinical condition improved rapidly. Moreover, DNT ratio continuously decreased during sirolimus application. CONCLUSION: We described a novel germline FAS mutation (c.857G > A, p.G286E) associated with a severe clinical phenotype of ALPS-FAS. Sirolimus effectively improved the patient clinical manifestations with obvious reduction of the DNT ratio. |
format | Online Article Text |
id | pubmed-9366043 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93660432022-08-12 Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio Gu, Hao Chen, Zhenping Ma, Jie Ma, Jingyao Fu, Lingling Zhang, Rui Wang, Tianyou Wu, Runhui Front Pediatr Pediatrics BACKGROUND: The autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective function of the FAS death receptor, which results in chronic, non-malignant lymphoproliferation and autoimmunity accompanied by elevated numbers of double-negative (DN) T cells (T-cell receptor α/β + CD4–CD8–) and an increased risk of developing malignancies later in life. CASE DESCRIPTION: Here, we report a patient with a de novo FAS mutation with a severe phenotype of ALPS-FAS. The FAS gene identified as a novel spontaneous germline heterozygous missense mutation (c.857G > A, p.G286E) in exon 9, causing an amino acid exchange and difference in hydrogen bond formation. Consequently, the treatment with sirolimus was initiated. Subsequently, the patient’s clinical condition improved rapidly. Moreover, DNT ratio continuously decreased during sirolimus application. CONCLUSION: We described a novel germline FAS mutation (c.857G > A, p.G286E) associated with a severe clinical phenotype of ALPS-FAS. Sirolimus effectively improved the patient clinical manifestations with obvious reduction of the DNT ratio. Frontiers Media S.A. 2022-07-28 /pmc/articles/PMC9366043/ /pubmed/35967554 http://dx.doi.org/10.3389/fped.2022.868193 Text en Copyright © 2022 Gu, Chen, Ma, Ma, Fu, Zhang, Wang and Wu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Gu, Hao Chen, Zhenping Ma, Jie Ma, Jingyao Fu, Lingling Zhang, Rui Wang, Tianyou Wu, Runhui Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio |
title | Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio |
title_full | Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio |
title_fullStr | Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio |
title_full_unstemmed | Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio |
title_short | Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio |
title_sort | case report: effectiveness of sirolimus in a de novo fas mutation leading to autoimmune lymphoproliferative syndrome-fas and elevated dnt/treg ratio |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366043/ https://www.ncbi.nlm.nih.gov/pubmed/35967554 http://dx.doi.org/10.3389/fped.2022.868193 |
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