Inborn errors of immunity with loss- and gain-of-function germline mutations in <i>STAT1</i>
Takaki Asano, Takanori Utsumi, Reiko Kagawa, Shuhei Karakawa, Satoshi Okada
Abstract
STAT1 dysfunction causes a wide range of immune dysregulation phenotypes, which have been classified into four disease types, namely, (i) autosomal recessive (AR) complete STAT1 deficiency, (ii) AR partial STAT1 deficiency, (iii) autosomal dominant (AD) STAT1 deficiency, and (iv) AD STAT1 gain of function (GOF), based on their mode of inheritance and function. Disease types (i, ii, and iii) are caused by STAT1 loss-of-function (LOF) mutations, whereas disease type (iv) is caused by STAT1 GOF mutations. Therefore, the functional analysis of mutations is necessary for the precise diagnosis.
Topics & Concepts
STAT1Loss functionMutationGeneticsBiologyGermlinePhenotypeFunction (biology)DiseaseImmune systemImmune dysregulationImmunityGermline mutationGeneMedicineInternal medicineImmunodeficiency and Autoimmune DisordersBlood disorders and treatmentsDiabetes and associated disorders