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Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease

Keigo Matsuyuki1, Mizuki Ide1, Keishirou Houjou1

  • 1Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|February 25, 2022
PubMed
Abstract

No abstract available in PubMed .

Keywords:
AP3B1 mutationhemophagocytic lymphohistiocytosisinterstitial lung diseaseneonatalpatients with Hermansky-Pudlak syndrome

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Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
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