Last Posted: Aug 05, 2021
- Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.
Forbes Lisa R et al. The Journal of allergy and clinical immunology 2021
- Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study.
Almalky Mohamed Abdelkader et al. The Pan African medical journal 2020 36354
- A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis.
Hoshino Akihiro et al. Journal of clinical immunology 2020 Sep
- Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque Vanessa et al. Blood advances 2020 Jun 4(12) 2578-2594
- Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients.
Mo Wenyuan et al. Experimental hematology 2019 Sep
- [Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
Li Y et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 May 39(5) 414-419
- The clinical and laboratory evaluation of familial hemophagocytic lymphohistiocytosis and the importance of hepatic and spinal cord involvement: a single center experience.
Beken Burcin et al. Haematologica 2018 103(2) 231-236
- Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.
Rubin Tamar S et al. Blood 2017 Jun 129(22) 2993-2999
- How can precision medicine help children with cancer?
By Srivani Ravoori, Cancer Research Catalyst Blog, Jul 29
- Hemophagocytic lymphohistiocytosis
From NCATS Genetic and Rare Diseases Information Center
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.