Giovanni Del Borrello Maurizio Miano Concetta Micalizzi Michela Lupia Isabella Ceccherini Alice Grossi Andrea Cavalli Stefano Gustincich Marta Rusmini Maura Faraci Gianluca Dell'Orso Ugo Ramenghi Alessio Mesini Erica Ricci Maurizio Schiavone Natascia Di Iorgi Carlo Dufour
10.3389/fimmu.2022.893000
Front Immunol
2022 May 19;13:893000.
bone marrow failure disorders cartilage-hair hypoplasia (chh) pure red cell aplasia (prca) sirolimus whole-genome sequencing (wgs)
CC BY
https://pubmed.ncbi.nlm.nih.gov/35663969/
Anemia Erythropoiesis
Anemia Erythropoiesis Case Reports Research Support, Non-U.S. Gov't Adult Female Hair / abnormalities Hirschsprung Disease Humans Osteochondrodysplasias / congenital Primary Immunodeficiency Diseases Sirolimus / therapeutic use Sirolimus Cartilage-hair hypoplasia Pyle disease
PMC9160192
35663969
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
2022