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...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-04-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2021.586320/full |
| _version_ | 1818963611878424576 |
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| author | Leonardo Oliveira Mendonca Leonardo Oliveira Mendonca Alex Isidoro Prado Izelda Maria Carvalho Costa Marcia Bandeira Rafael Dyer Samar Freschi Barros Karen Francine Khöler Luiz Augusto Marcondes Fonseca Jorge Kalil Fabio Morato Castro Myrthes Anna Maragna Toledo-Barros |
| author_facet | Leonardo Oliveira Mendonca Leonardo Oliveira Mendonca Alex Isidoro Prado Izelda Maria Carvalho Costa Marcia Bandeira Rafael Dyer Samar Freschi Barros Karen Francine Khöler Luiz Augusto Marcondes Fonseca Jorge Kalil Fabio Morato Castro Myrthes Anna Maragna Toledo-Barros |
| author_sort | Leonardo Oliveira Mendonca |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-20T12:47:59Z |
| format | Article |
| id | doaj.art-d1e9141ad6c54fa0ab0443a1602fdbfc |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-20T12:47:59Z |
| publishDate | 2021-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-d1e9141ad6c54fa0ab0443a1602fdbfc2022-12-21T19:40:16ZengFrontiers Media S.A.Frontiers in Immunology1664-32242021-04-011210.3389/fimmu.2021.586320586320Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) SyndromeLeonardo Oliveira Mendonca0Leonardo Oliveira Mendonca1Alex Isidoro Prado2Izelda Maria Carvalho Costa3Marcia Bandeira4Rafael Dyer5Samar Freschi Barros6Karen Francine Khöler7Luiz Augusto Marcondes Fonseca8Jorge Kalil9Fabio Morato Castro10Myrthes Anna Maragna Toledo-Barros11Clinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, BrazilLaboratory for Immunological Investigation (LIM-19), Heart Institute, University of São Paulo, São Paulo, BrazilClinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, BrazilDiscipline of Dermatology, University of Brasília, Brasília, BrazilDepartment of Pediatric Rheumatology, Hospital Pequeno Príncipe, Paraná, BrazilDepartment of Surgical Pathology, School of Medicine, University of São Paulo, São Paulo, BrazilLaboratory for Immunological Investigation (LIM-19), Heart Institute, University of São Paulo, São Paulo, BrazilLaboratory for Immunological Investigation (LIM-19), Heart Institute, University of São Paulo, São Paulo, BrazilClinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, BrazilClinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, BrazilClinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, BrazilClinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, BrazilSince 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.https://www.frontiersin.org/articles/10.3389/fimmu.2021.586320/fullSIFDrecurrent fevererythema nodosumB-cell deficiencyTRNT1 |
| spellingShingle | Leonardo Oliveira Mendonca Leonardo Oliveira Mendonca Alex Isidoro Prado Izelda Maria Carvalho Costa Marcia Bandeira Rafael Dyer Samar Freschi Barros Karen Francine Khöler Luiz Augusto Marcondes Fonseca Jorge Kalil Fabio Morato Castro Myrthes Anna Maragna Toledo-Barros Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome Frontiers in Immunology SIFD recurrent fever erythema nodosum B-cell deficiency TRNT1 |
| 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 | SIFD recurrent fever erythema nodosum B-cell deficiency TRNT1 |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2021.586320/full |
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