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Title: Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome
Authors: MENDONCA, Leonardo OliveiraPRADO, Alex IsidoroCOSTA, Izelda Maria CarvalhoBANDEIRA, MarciaDYER, RafaelBARROS, Samar FreschiKHOLER, Karen FrancineFONSECA, Luiz Augusto MarcondesKALIL, JorgeCASTRO, Fabio MoratoTOLEDO-BARROS, Myrthes Anna Maragna
Citation: FRONTIERS IN IMMUNOLOGY, v.12, article ID 586320, 5p, 2021
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.
Appears in Collections:Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - LIM/19
Artigos e Materiais de Revistas Científicas - LIM/38
Artigos e Materiais de Revistas Científicas - LIM/60

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