R

U

RAMENGHI , Ugo

Last name: RAMENGHI

First name: Ugo

2022 (v1)

Publication

Metadata-only

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report

Del Borrello, Giovanni Miano, Maurizio Micalizzi, Concetta

Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined immunodeficiency in infancy, or slowly progress until fully manifesting in late adolescence/adulthood. No targeted treatment is currently available, and...

Uploaded on: February 14, 2024
2019 (v1)

Publication

Metadata-only

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Montin, Davide Marolda, Agostina Licciardi, Francesco

Patients with 22q11.2 deletion syndrome (22q11.2DS) may develop severe thrombocytopenic purpura and hemolytic anemia. There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients.

Uploaded on: April 14, 2023