Familial Hemophagocytic Lymphohistiocytosis (FHLH) Perforin Deficiency: A Case Study and Literature Review.

Autor:	Alasmari BG; Pediatric Hematology and Oncology, Armed Forces Hospital Southern Region, Khamis Mushait, SAU., Mohammed SE; Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU., Ali M; Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU., Elzubair L; Pathology, Armed Forces Hospital Southern Region, Khamis Mushait, SAU., Altayeb OA; Flowcytometry, Flow Cytometry Laboratory for Leukemia & Lymphoma Diagnosis, Khartoum, SDN., Alshehri KS; Pediatric Intensive Care Unit, Armed Forces Hospital Southern Region, Khamis Mushait, SAU., Alpakra M; Pediatric Hematology and Oncology, Armed Forces Hospital Southern Region, Khamis Mushait, SAU., Mohammed M; Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU., Alabbas A; Pediatrics, Najran General Hospital, Najran, SAU.; Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Mar 08; Vol. 16 (3), pp. e55770. Date of Electronic Publication: 2024 Mar 08 (Print Publication: 2024).
DOI:	10.7759/cureus.55770
Abstrakt:	Hemophagocytic lymphohistocytosis (HLH) is a severe and fatal immunological disorder that is either primary (i.e., familial) or secondary (i.e., acquired). The primary type comprises autosomal recessive disorders with gene mutations related to natural killer cells and cytotoxic T-cells, whereas the secondary type is related to other pathological causes, such as Epstein-Barr virus, bacterial or fungal infection, autoimmune conditions or autoinflammatory diseases, metabolic disorders, and cancer. In this report, we discuss a 37-day-old male who was brought to the emergency room with fever, decreased activity, and hepatosplenomegaly, with a strong family history of unknown cause of death for three siblings who died at the ages of one to two months. A whole exome sequencing confirmed the clinical diagnosis of familial HLH due to mutation in the PRF1 gene. We note the special importance of genetic counselling and antenatal screening or early neonatal screening in families affected by HLH, as this case highlights the importance of early diagnosis and intervention of primary HLH. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2024, Alasmari et al.)
Databáze:	MEDLINE
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