Blau Syndrome
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Last Posted: Jul 04, 2024
- Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.
Michaela Brichova, et al. Genes 2024 0 (6) - Phenotypes and genotypes of Chinese adult patients with systemic autoinflammatory diseases.
Hua Yichao, et al. Seminars in arthritis and rheumatism 2019 0 (3) 446-452 - Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.
Zhong Zhenyu, et al. Ophthalmology 2022 0 (7) 821-828 - Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome.
Son SangWook, et al. Rheumatology international 2010 0 (8) 1121-4 - Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.
Mensa-Vilaro Anna, et al. Arthritis & rheumatology (Hoboken, N.J.) 2015 11 - [Mutations of NOD2 gene and clinical features in Chinese Blau syndrome patients].
Wang Wei, et al. Zhonghua er ke za zhi. Chinese journal of pediatrics 2014 12 (12) 896-901 - Blau syndrome
From NCATS Genetic and Rare Diseases Information Center - Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis.
Milman Nils, et al. The clinical respiratory journal 2007 12 (2) 74-9 - Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients.
Rodríguez-Pérez Noelia, et al. Disease markers 2009 0 (1) 1-5 - Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.
Okafuji Ikuo, et al. Arthritis and rheumatism 2009 1 (1) 242-50
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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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