Last Posted: Jun 25, 2020
- 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
- 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
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
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