Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure
| Autor: | Yoav H. Messinger, Angela R. Smith, Anne G Griffiths, William A. Mize, Damon R Olson, Tamara C Pozos |
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| Rok vydání: | 2021 |
| Předmět: |
endocrine system
Hemophagocytic lymphohistiocytosis Pediatrics medicine.medical_specialty business.industry fungi food and beverages Hematology medicine.disease Delayed diagnosis Compound heterozygosity 03 medical and health sciences Young age 0302 clinical medicine Griscelli syndrome type 2 Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Medicine Pulmonary failure business 030215 immunology |
| Zdroj: | Pediatric Hematology and Oncology. 38:593-601 |
| ISSN: | 1521-0669 0888-0018 |
| DOI: | 10.1080/08880018.2021.1895925 |
| Popis: | Griscelli syndrome type 2 (GS2) is caused by mutations of the RAB27A gene and can be complicated by hemophagocytic lymphohistiocytosis (HLH) at a very young age. A 14 year-old girl with prior histo... |
| Databáze: | OpenAIRE |
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