A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report

Abstract

Hyper-immunoglobulin E syndrome (HIES) is a rare immunologic disorder. This syndrome is caused by mutations in signal transducer and activator of transcription 3 gene. The described case report showed clinical HIES features such as recurrent bacterial pneumonia, lung cysts, characteristic facial features and a newborn dermatitis. We found a clinical features score of 35 and a positive family history, which, together, made a HIES diagnosis very probable. During DNA analysis, a new, formerly unknown, 1067C→G (p.P356R) mutation, with reference sequence NM_139276.2, was found in the DNA binding site of the STAT3 gene. Both the child and his mother were affected. Thus, this family is affected by the autosomal dominant, HIES. This case report reveals a formerly unknown mutation, 1067C→G (p.P356R) in this gene.

A Rare Case of Job Syndrome With Autism: Complicated With Hidradenitis Suppurativa and Chronic Deep Vein Thrombosis

“…Hyper-IgE syndrome is a complex and rare primary immunodeficiency disorder classically characterized by a triad of eosinophilia, atopic dermatitis, recurrent skin, and pulmonary infections [1]. However, it has been known to include the anomalies of skeletal, connective tissues, heart, and brain [2,3].…”

“…Hyper-immunoglobulin E syndrome (HIES), which is also known as Job syndrome, was first described in 1966 in two girls, although it does not have any gender or ethnic predominance [1,2]. HIES is a rare immune disorder with both autosomal dominant and recessive inheritance linked to STAT3 gene mutation resulting in defect of Th17 cell genesis and modulation capacity of interleukin 6 and 10 [3][4][5][6].…”

“…STAT3 gene is widely involved in modulating healing and the immune mechanism. This rare primary immune deficiency manifests with recurrent skin and lung infection, dermatitis, and high IgE count [1,2]. Opportunistic infections like Pneumocystis jiroveci pneumonia and disseminated histoplasmosis are not uncommon [4].…”

Dupilumab improved atopic dermatitis without aggravating tuberculous eosinophilic pleural effusion in hyperimmunoglobulin-E syndrome

“…Notably, another nucleotide in the same codon was established as pathogenic in autosomal dominant patients with HIES (c.1067C > G, p.Pro356Arg). 1 Hence, HIES with STAT3 mutation was diagnosed in this patient.…”