Last Posted: Mar 15, 2023
- A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.
Dobrewa Weronika, et al. Pediatric blood & cancer 2023 0 (4) e30247
- ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry.
Donadieu Jean, et al. Pediatric blood & cancer 2022 0 (11) e29923
- Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia.
Klimiankou Maksim, et al. Annals of the New York Academy of Sciences 2016 4 (1) 119-25
- Cyclic neutropenia
From NCATS Genetic and Rare Diseases Information Center
- Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
Melis Daniela, et al. European journal of pediatrics 2005 8 (8) 501-8
- Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanné-Chantelot Christine, et al. Blood 2004 6 (11) 4119-25
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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.
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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