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
10.3389/fimmu.2021.586320
Front Immunol
2021 Apr 14;12:586320.
b-cell deficiency sifd trnt1 erythema nodosum recurrent fever
CC BY
https://pubmed.ncbi.nlm.nih.gov/33936027/
Anemia, Sideroblastic / diagnosis Anemia, Sideroblastic / etiology Developmental Disabilities / diagnosis Disease Susceptibility Fever Immunologic Deficiency Syndromes / diagnosis Phenotype
Anemia, Sideroblastic / diagnosis Anemia, Sideroblastic / etiology Developmental Disabilities / diagnosis Disease Susceptibility Fever Immunologic Deficiency Syndromes / diagnosis Phenotype Case Reports Alleles Biopsy DNA Mutational Analysis Female Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Lymphocytes / immunology Lymphocytes / metabolism Mutation
PMC8079983
33936027
Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome
2021