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. 2019 Sep;74(9):1691-1702.
doi: 10.1111/all.13753. Epub 2019 Apr 4.

Lung disease in STAT3 hyper-IgE syndrome requires intense therapy

Carolin Kröner  1   2 , Jens Neumann  3 , Julia Ley-Zaporozhan  4 , Beate Hagl  1   5 , Iris Meixner  1 , Benedikt D Spielberger  1   5 , Gregor Dückers  6 , Bernd H Belohradsky  1 , Tim Niehues  6 , Michael Borte  7 , Joseph Rosenecker  1 , Matthias Kappler  1 , Susanne Nährig  8 , Simone Reu  3 , Matthias Griese  1   2 , Ellen D Renner  1   5   9
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Lung disease in STAT3 hyper-IgE syndrome requires intense therapy

Carolin Kröner et al. Allergy. 2019 Sep.

Abstract

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.

Keywords: ABCA3; STAT3 hyper-IgE syndrome; bronchiectasis; lung disease; pneumatocele; primary immunodeficiency.

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References

REFERENCES

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