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 TITLE=Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome JOURNAL=Frontiers in Immunology VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2021.586320 DOI=10.3389/fimmu.2021.586320 ISSN=1664-3224 ABSTRACT=

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.