Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient
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LETTER TO EDITOR
Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient Fahad Alsohime 1 & Talal Almaghamsi 2 & Talal A. Basha 3 & Hosam Alardati 4 & Malak Alghamdi 5 & Yousef Mohammed Hawsawi 6,7,8 Received: 28 August 2020 / Accepted: 16 September 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the editor, Lymphoproliferative disorders represent a heterogeneous group of monoclonal or polyclonal lymphoid neoplasm that occurs in patients with immune dysfunction. Approximately 90% of patients with lymphoproliferative disorders have lung involvement, which is usually diagnosed at presentation [1]. Familial hemophagocytic lymphohistiocytosis 2 (FHL) is an autosomal recessive disorder resulting from biallelic mutation in the gene encoding perforin (PRF1; 170280) gene [2]. According to the Histiocyte Society, five out of the following eight criteria are necessary to reach a diagnosis of hemophagocytic lymphohistiocytosis (HLH): fever, enlarged spleen, pancytopenia, hypertriglyceridemia, or hypofibrinogenemia and hemophagocyte in organ biopsy. Additional diagnostic criteria
* Fahad Alsohime [email protected] 1
Pediatric Intensive Care Unit, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, PO Box: 7805, Pediatric number 39, Riyadh 11472, Saudi Arabia
2
Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia
3
Pediatric Allergy-Immunology, Pediatric Department, Faculty of Medicine, University of Jeddah, Jeddah, Kingdom of Saudi Arabia
4
Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia
5
Pediatric Genetics and Metabolic Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
6
Research Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah 21499, Kingdom of Saudi Arabia
7
College of Medicine, Al-Faisal University, P.O. Box 50927, Riyadh 11533, Saudi Arabia
8
Saudi Human Genome Program‐Jeddah Satellite Laboratory, Research Center, King Faisal Specialist Hospital and Research Center, P.O. Box 40047, Jeddah 21499, Kingdom of Saudi Arabia
include decreased or absent natural cell activity, hyperferritinemia, and elevated CD25 [3]. Previously, it was reported that 13–50% of adult or pediatric HLH patients had respiratory symptoms; however, no details of the respiratory involvement were presented [4]. Interstitial lung disease (ILD) is one presentation of a variable HLH pulmonary phenotype; it includes granulomatous disease, lymphoid interstitial pneumonia, organizing pneumonia, and lymphoproliferative disorder. The pathophysiology of these complications in HLH patients remains unclear [4]. Lymphocytic interstitial pneumonia is an uncommon lympho-proliferative disorder characterized by infiltration of the interstitial spaces of the lungs by lymphocytes, plasma cells, and other lymphoreticular cells. R
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