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Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome
Since the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported. Moreover, prominent skin involvement, such as with relapsing erythema nodos...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8079983/ https://www.ncbi.nlm.nih.gov/pubmed/33936027 http://dx.doi.org/10.3389/fimmu.2021.586320 |
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author | Mendonca, Leonardo Oliveira Prado, Alex Isidoro Costa, Izelda Maria Carvalho Bandeira, Marcia Dyer, Rafael Barros, Samar Freschi Khöler, Karen Francine Fonseca, Luiz Augusto Marcondes Kalil, Jorge Castro, Fabio Morato Toledo-Barros, Myrthes Anna Maragna |
author_facet | Mendonca, Leonardo Oliveira Prado, Alex Isidoro Costa, Izelda Maria Carvalho Bandeira, Marcia Dyer, Rafael Barros, Samar Freschi Khöler, Karen Francine Fonseca, Luiz Augusto Marcondes Kalil, Jorge Castro, Fabio Morato Toledo-Barros, Myrthes Anna Maragna |
author_sort | Mendonca, Leonardo Oliveira |
collection | PubMed |
description | Since the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported. Moreover, prominent skin involvement, such as with relapsing erythema nodosum, is not a common finding. Up to this moment, no genotype and phenotype correlation could be done, but mild phenotypes seem to be located in the N or C part. B-cell deficiency is a hallmark of SIFD syndrome, and multiple others immunological defects have been reported, but not high levels of double negative T cells. Here we report a Brazilian patient with a novel phenotype of SFID syndrome, carrying multiple immune defects and harboring a novel mutation on TRNT1 gene. |
format | Online Article Text |
id | pubmed-8079983 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-80799832021-04-29 Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome Mendonca, Leonardo Oliveira Prado, Alex Isidoro Costa, Izelda Maria Carvalho Bandeira, Marcia Dyer, Rafael Barros, Samar Freschi Khöler, Karen Francine Fonseca, Luiz Augusto Marcondes Kalil, Jorge Castro, Fabio Morato Toledo-Barros, Myrthes Anna Maragna Front Immunol Immunology Since the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported. Moreover, prominent skin involvement, such as with relapsing erythema nodosum, is not a common finding. Up to this moment, no genotype and phenotype correlation could be done, but mild phenotypes seem to be located in the N or C part. B-cell deficiency is a hallmark of SIFD syndrome, and multiple others immunological defects have been reported, but not high levels of double negative T cells. Here we report a Brazilian patient with a novel phenotype of SFID syndrome, carrying multiple immune defects and harboring a novel mutation on TRNT1 gene. Frontiers Media S.A. 2021-04-14 /pmc/articles/PMC8079983/ /pubmed/33936027 http://dx.doi.org/10.3389/fimmu.2021.586320 Text en Copyright © 2021 Mendonca, Prado, Costa, Bandeira, Dyer, Barros, Khöler, Fonseca, Kalil, Castro and Toledo-Barros 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 | Immunology Mendonca, Leonardo Oliveira Prado, Alex Isidoro Costa, Izelda Maria Carvalho Bandeira, Marcia Dyer, Rafael Barros, Samar Freschi Khöler, Karen Francine Fonseca, Luiz Augusto Marcondes Kalil, Jorge Castro, Fabio Morato Toledo-Barros, Myrthes Anna Maragna Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome |
title | Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome |
title_full | Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome |
title_fullStr | Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome |
title_full_unstemmed | Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome |
title_short | Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome |
title_sort | case report: expanding clinical, immunological and genetic findings in sideroblastic anemia with immunodeficiency, fevers and development delay (sifd) syndrome |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8079983/ https://www.ncbi.nlm.nih.gov/pubmed/33936027 http://dx.doi.org/10.3389/fimmu.2021.586320 |
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