Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports.

ABSTRACT:

Rationale

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. To date, only about 500 cases have been reported worldwide including 37 cases in China. The spectrum and prevalence of mutations and molecular pathogenesis in HIES remain poorly understood.

Patient concerns

Here we reported two Chinese children presenting clinical manifestations of HIES.

Diagnosis

Based on medical history, clinical manifestations, and laboratory findings, a diagnosis of HIES was made for both children. Targeted next-generation sequencing (NGS) identified a novel heterozygous deletion of 15 bp (c.1960_1974d

SUBMITTER: Deng Y 

PROVIDER: S-EPMC6380800 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature