Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated WithSTAT1Gain-of-Function Mutation: Detailed Clinicopathological Findings
| العنوان: | Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated WithSTAT1Gain-of-Function Mutation: Detailed Clinicopathological Findings |
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| المؤلفون: | Manvi Bansal, Rory Kamerman-Kretzmer, Jianling Ji, Joseph A. Church, Moe R Takeda, Mikako Warren |
| المصدر: | Pediatric and Developmental Pathology. 24:131-136 |
| بيانات النشر: | SAGE Publications, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, Population, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Biopsy, medicine, Chronic mucocutaneous candidiasis, education, Exome sequencing, education.field_of_study, Bronchiectasis, Lung, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Etiology, Airway, business |
| الوصف: | STAT1 gain-of-function (GOF) mutations are associated with a rare autosomal dominant immunodeficiency disorder with main clinical manifestations including chronic mucocutaneous candidiasis (CMC) and bronchiectasis. In addition, these patients show higher incidences of cerebral and extracerebral aneurysm, malignancies and various autoimmune conditions compared to the general population. Although previous publications have reported clinical findings in patients with STAT1 GOF mutation, they did not include histopathologic features. Herein, we describe the first case with detailed histologic findings in the lung of a 5-year-old patient with a de novo STAT1 GOF mutation, who presented with CMC and bronchiectasis. The biopsy showed severe bronchiolectasis with extensive airway dilatation and occasional disruptions. Peribronchiolar inflammation was not always present and evident mainly in areas of airway disruption; inflammation may have not been a main driver of the airway damage in this case. The airway dilatation often showed an interesting herniating pattern, possibly implying a connective tissue etiology. This case also demonstrates the diagnostic utility of whole exome sequencing as STAT1 GOF mutations are not detected by routine workup. The definitive diagnosis will lead to more specific treatments and increased surveillance for serious conditions, such as cerebral aneurysms and malignancies. |
| تدمد: | 1615-5742 1093-5266 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::6695759fadd8a6f3dd2a6795374dd440 https://doi.org/10.1177/1093526620985950 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi...........6695759fadd8a6f3dd2a6795374dd440 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16155742 10935266 |
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