Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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
_version_ 1783685334462103552
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
work_keys_str_mv AT mendoncaleonardooliveira casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT pradoalexisidoro casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT costaizeldamariacarvalho casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT bandeiramarcia casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT dyerrafael casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT barrossamarfreschi casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT kholerkarenfrancine casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT fonsecaluizaugustomarcondes casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT kaliljorge casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT castrofabiomorato casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome
AT toledobarrosmyrthesannamaragna casereportexpandingclinicalimmunologicalandgeneticfindingsinsideroblasticanemiawithimmunodeficiencyfeversanddevelopmentdelaysifdsyndrome