Pediatric hyperimmunoglobulin E syndrome (Job's syndrome) with STAT3 mutation: A case report.

INTRODUCTION: Job's syndrome or hyper-immunoglobulin E syndromes (HIES) is a rare, heterogeneous complex of primary immunodeficiency disorders. It is characterized by triad of extremely high serum immunoglobulin E (IgE) levels, recurrent cutaneous infections like chronic eczematous dermatitis, skin abscesses and recurrent sinopulmonary infections. These patients have characteristic facial appearance and many oral manifestations. Eosinophilia, retention of deciduous teeth and skeletal abnormalities are other important clinical features of this syndrome. Familial HIES is of two types depending on the type of gene involved; autosomal-dominant HIES (AD-HIES), which develops due to mutation in human signal transducer and activator of transcription 3 gene (STAT3) and autosomal recessive HIES caused by DOCK8 gene mutation, but most cases are sporadic.

CASE PRESENTATION: Hereby, we present a case of 5 years old female child who presented to our hospital with extensive eczematous lesions over flexural aspect of arms and over the gluteal region extending to the lower limb. The complete clinical presentation and lab investigations have confirmed AD-HIES syndrome. A novel missense mutation in exon 17 (c.1593A > T, p.K531 N) was identified in the STAT3 gene.

DISCUSSION: The therapeutic strategy is directed mainly toward the prevention and management of infections and symptoms. Children affected with HIES can develop life-threatening pulmonary infections. Pulmonary complications must be identified in the early stage of the disease to treat them effectively. Hence, early diagnosis and proper management are necessary.

CONCLUSION: To date, information about paediatric HIES is limited. This case presents the clinical features, investigational procedures and management strategy for that particular condition in paediatric population.