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=Volume 12 - 2021

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 mani-festations has 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 seems 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.