article_metadata: 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
article_metadata: 10.3389/fimmu.2022.893000
article_metadata: Front Immunol
article_metadata: 2022 May 19;13:893000.
article_metadata: bone marrow failure disorders cartilage-hair hypoplasia (chh) pure red cell aplasia (prca) sirolimus whole-genome sequencing (wgs)
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/35663969/
article_metadata: Anemia Erythropoiesis
article_metadata: 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
article_metadata: PMC9160192
article_metadata: 35663969
article_metadata: Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
article_metadata: 2022