Ctla4 variant of uncertain significance in a patient with a history of cytopenias

CTLA-4 haploinsufficiency is caused by heterozygous mutations in CTLA4, a negative regulator of immune responses. Hypogammaglobulinemia, infections, and autoimmune cytopenias can be seen. Here, we describe a patient with history of ITP who presented with neutropenic fever, lymphopenia, and hypogammaglobulinemia in the setting of COVID-19 with a VUS in CTLA4.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M275 Source Type: research