Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.
Adolescent
Adult
Anti-Infective Agents
/ therapeutic use
Biopsy
Child
Combined Modality Therapy
Disease Management
Disease Susceptibility
Female
Humans
Immunohistochemistry
Job Syndrome
/ complications
Lung Diseases
/ diagnosis
Male
Middle Aged
Prognosis
Radiography, Thoracic
Respiratory Function Tests
STAT3 Transcription Factor
/ genetics
Symptom Assessment
Tomography, X-Ray Computed
Treatment Outcome
Young Adult
ABCA3
STAT3 hyper-IgE syndrome
bronchiectasis
lung disease
pneumatocele
primary immunodeficiency
Journal
Allergy
ISSN: 1398-9995
Titre abrégé: Allergy
Pays: Denmark
ID NLM: 7804028
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
03
05
2018
revised:
26
09
2018
accepted:
31
10
2018
pubmed:
23
2
2019
medline:
5
8
2020
entrez:
23
2
2019
Statut:
ppublish
Résumé
Pulmonary complications are responsible for high morbidity and mortality rates in patients with the rare immunodeficiency disorder STAT3 hyper-IgE syndrome (STAT3-HIES). The aim of this study was to expand knowledge about lung disease in STAT3-HIES. The course of pulmonary disease, radiological and histopathological interrelations, therapeutic management, and the outcome of 14 STAT3-HIES patients were assessed. The patients' quality of life was compromised most by pulmonary disease. All 14 patients showed first signs of lung disease at a median onset of 1.5 years of age. Lung function revealed a mixed obstructive-restrictive impairment with reduced FEV1 and FVC in 75% of the patients. The severity of lung function impairment was associated with Aspergillus fumigatus infection and prior lung surgery. Severe lung tissue damage, with reduced numbers of ATP-binding cassette sub-family A member 3 (ABCA3) positive type II pneumocytes, was observed in the histological assessment of two deceased patients. Imaging studies of all patients above 6 years of age showed severe airway and parenchyma destruction. Lung surgeries frequently led to complications, including fistula formation. Long-term antifungal and antibacterial treatment proved to be beneficial, as were inhalation therapy, chest physiotherapy, and exercise. Regular immunoglobulin replacement therapy tended to stabilize lung function. Due to its severity, pulmonary disease in STAT3-HIES patients requires strict monitoring and intensive therapy.
Sections du résumé
BACKGROUND
Pulmonary complications are responsible for high morbidity and mortality rates in patients with the rare immunodeficiency disorder STAT3 hyper-IgE syndrome (STAT3-HIES). The aim of this study was to expand knowledge about lung disease in STAT3-HIES.
METHODS
The course of pulmonary disease, radiological and histopathological interrelations, therapeutic management, and the outcome of 14 STAT3-HIES patients were assessed.
RESULTS
The patients' quality of life was compromised most by pulmonary disease. All 14 patients showed first signs of lung disease at a median onset of 1.5 years of age. Lung function revealed a mixed obstructive-restrictive impairment with reduced FEV1 and FVC in 75% of the patients. The severity of lung function impairment was associated with Aspergillus fumigatus infection and prior lung surgery. Severe lung tissue damage, with reduced numbers of ATP-binding cassette sub-family A member 3 (ABCA3) positive type II pneumocytes, was observed in the histological assessment of two deceased patients. Imaging studies of all patients above 6 years of age showed severe airway and parenchyma destruction. Lung surgeries frequently led to complications, including fistula formation. Long-term antifungal and antibacterial treatment proved to be beneficial, as were inhalation therapy, chest physiotherapy, and exercise. Regular immunoglobulin replacement therapy tended to stabilize lung function.
CONCLUSIONS
Due to its severity, pulmonary disease in STAT3-HIES patients requires strict monitoring and intensive therapy.
Substances chimiques
Anti-Infective Agents
0
STAT3 Transcription Factor
0
STAT3 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1691-1702Subventions
Organisme : chILD_EU
ID : FP7, No. 305653
Pays : International
Organisme : German Center for Lung Research (DZL)
Pays : International
Organisme : Wilhelm-Sander Stiftung
ID : 2013.015.2
Pays : International
Organisme : German Research Foundation
ID : DFG-970/8-1
Pays : International
Organisme : The German Research Foundation
ID : DFG RE2799/6-1
Pays : International
Organisme : Fritz-Bender foundation
Pays : International
Informations de copyright
© 2019 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.
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