A single recurrent dominant variant in ITPR3 leads to a syndromic immunodeficiency

ABSTRACT: Intracellular calcium levels are finely tuned through intricate actions of a number of channels and transporters, including those at key endocellular stores, e.g. endoplasmic reticulum (ER), lysosomes, and mitochondria. Along with the highly homologous genes Inositol 1,4,5-trisphosphate (IP3) receptor type 1 (ITPR1) and 2 (ITPR2), ITPR3 encodes the IP3 receptor (IP3R), a key player in intracellular calcium release in animals. Here we report the first cases of ITPR3 defects in man leading to a primarily dysimmune phenotype. In four unrelated patients of diverse ethnicity, and suffering from a complex immunodeficiency syndrome, we report the same de novo pathogenic variant - c.7570C>T; p.Arg2524Cys - in ITPR3. Clinically, recurrent severe infectious episodes of viral and bacterial origins, f

INSTRUMENT(S): Illumina NovaSeq 6000, Chromium Controller (10X Genomics)

ORGANISM(S): Homo sapiens

SUBMITTER: Raphael Carapito 

PROVIDER: E-MTAB-13124 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress