Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

Immunol Lett. 2020 Sep:225:64-65. doi: 10.1016/j.imlet.2020.06.012. Epub 2020 Jun 24.

¹ Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Del Sacro Cuore, Rome, Italy. Electronic address: drigante@gmail.com.
² Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
³ Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
⁴ Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.
⁵ Hospital Vito Fazzi, Lecce, Italy.
⁶ Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.

No abstract available

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