A case of recurrent aspiration pneumonia and persistent eosinophilia

Homozygous or compound heterozygous loss-of-function (LOF) mutations in CARMIL2 are associated with combined immunodeficiency disorder with a variable phenotypic presentation in 10 families (21 patients). Clinical manifestations include recurrent skin and lung infections, dermatitis, chronic diarrhea, esophagitis, and failure-to-thrive. Here we describe a case of immune deficiency associated with an apparently homozygous, novel variant c.1942delC (p.His648ThrfsX20) in the CARMIL2 gene (RLTPR).
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M228 Source Type: research