Treatment approaches to hyper-IgE syndrome: a clinical case report

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Abstract

The hyper-IgE syndrome with dominant-negative mutations in signal transducer and activator of transcription 3 (STAT3) gene is a combined primary immunodeficiency characterized by severe bacterial infections (skin and lungs with bullae formation), characteristic phenotype, serum IgE elevation, eosinophilia, as well as connective tissue, and bone anomalies. Patients also have  high risk of cancer. STAT3 is a transcription factor important for the JAK/STAT signaling pathway, which plays the key role in the synthesis of cytokines, hormones, and bioactive agents. Hyper-IgE syndrome therapy includes antimicrobial prophylaxis, immunoglobulin replacement, and use of bisphosphonates. Hematopoietic stem cell transplantation is an alternative way for the disease treatment. Here we describe a patient with severe autosomal dominant hyper-IgE-syndrome with thte loss-of-function mutation in the STAT3 gene. Patient's parents agreed to use personal dats and photos in research and publications.

About the authors

A. K. Kantulaeva

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

Author for correspondence.
ORCID iD: 0000-0001-5962-1264
Russian Federation

N. B. Kuzmenko

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

Email: plunge@list.ru
ORCID iD: 0000-0002-1669-8621

 MD, Chief of the Department of Epidemiology and PIDS monitoring.

 117997, Moscow, Samory Mashela st., 1. 

Russian Federation

E. V. Deripapa

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

ORCID iD: 0000-0002-9083-4783
Russian Federation

D. V. Yukhacheva

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

ORCID iD: 0000-0001-9078-8206
Russian Federation

E. A. Victorova

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

ORCID iD: 0000-0002-2427-1417
Russian Federation

V. I. Burlakov

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

ORCID iD: 0000-0003-1267-9957
Russian Federation

A. Y. Shcherbina

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

ORCID iD: 0000-0002-3113-4939
Russian Federation

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Copyright (c) 2019 Kantulaeva A.K., Kuzmenko N.B., Deripapa E.V., Yukhacheva D.V., Victorova E.A., Burlakov V.I., Shcherbina A.Y.

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