Autosomal recessive hyper‐IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14847
Abstract: The hyper-IgE syndromes (HIES) are complex primary immunodeficiency disorders, including autosomal dominant form (AD-HIES) and recessive form (AR-HIES). Here we describe two boys with AR-HIES in a Chinese family and a novel mutation of DOCK8… read more here.
Keywords: family novel; hyper ige; chinese family; novel mutation ... See more keywords
A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00360
Abstract: Leukocyte adhesion deficiency-III (LAD3) is an extremely rare primary immunodeficiency disorder, transmitted with autosomal-recessive inheritance. It is caused by genetic alteration in the FERMT3 gene, which leads to abnormal expression of kindlin-3. This cytoplasmic protein… read more here.
Keywords: novel nonsense; family novel; fermt3; family ... See more keywords