Chronic Granulomatous Disease
What's New
Last Posted: Aug 04, 2022
- Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446 - The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.
Qureshi Sonia et al. The World Allergy Organization journal 2020 Jul 13(7) 100133 - Lentiviral gene therapy for X-linked chronic granulomatous disease
DB Kohn et al, Nature Medicine, January 27, 2020 - Gene Editing in Chronic Granulomatous Disease.
Sweeney Colin L et al. Methods in molecular biology (Clifton, N.J.) 2019 1982623-665 - A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.
De Boer Martin et al. Journal of medical genetics 2018 55(3) 166-172 - Advances and highlights in primary immunodeficiencies in 2017.
Chinen Javier et al. The Journal of allergy and clinical immunology 2018 142(4) 1041-1051 - Diagnostic Testing for Chronic Granulomatous Disease.
Kuhns Douglas B et al. Methods in molecular biology (Clifton, N.J.) 2019 1982543-571 - 65 Years of DNA
Frontline Genomics, Apr 25, 2018 - Gene Therapy Approaches to Immunodeficiency.
Ghosh Sujal et al. Hematology/oncology clinics of North America 2017 Oct 31(5) 823-834 - The Swiss National Registry for Primary Immunodeficiencies: Report on the first 6 years' activity 2008-2014.
Marschall Karin et al. Clin. Exp. Immunol. 2015 Jun 1.
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About Rare Diseases PHGKB
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
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