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Results 1 - 9 of 9 for Autoinflammatory syndrome
  1. NLRP12 gene 
    ... gene have been found to cause familial cold autoinflammatory syndrome type 2. This condition causes episodes of fever, ... the NLRP12 gene variants that cause familial cold autoinflammatory syndrome type 2 are in a region of the ...
    https://medlineplus.gov/genetics/gene/nlrp12 - Genetics
  2. NLRP3 gene 
    ... CAPS include three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and ... Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory ... Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? J Clin ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  3. PSMB8 gene 
    ... subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A. 2011 ...
    https://medlineplus.gov/genetics/gene/psmb8 -
  4. LPIN2 gene 
    ... PubMed Central Ferguson PJ, El-Shanti H. Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features. Biomolecules. 2021 Feb 28;11(3):367. doi: 10.3390/biom11030367. Citation on PubMed Hetrick R, Oliver M. Pediatric autoinflammatory bone disorders-a mini review with special focus ...
    https://medlineplus.gov/genetics/gene/lpin2 - Genetics
  5. NOD2 gene 
    ... granulomatosis syndromes: a study of the original Blau syndrome kindred and other ... autoinflammatory disease: a large cohort study. Rheumatology (Oxford). 2015 ...
    https://medlineplus.gov/genetics/gene/nod2 - Genetics
  6. UBA1 gene 
    ... Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020 Dec 31; ... characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  7. HLA-B gene 
    ... PubMed Gul A. Pathogenesis of Behcet's disease: autoinflammatory features and beyond. Semin Immunopathol. 2015 Jul;37( ...
    https://medlineplus.gov/genetics/gene/hla-b - Genetics
  8. STING1 gene 
    ... result from abnormally increased inflammation are known as autoinflammatory diseases. More About This Health Condition endoplasmic reticulum ... R. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014 Aug 7;371( ...
    https://medlineplus.gov/genetics/gene/sting1 - Genetics
  9. PLCG2 gene 
    ... PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012 ...
    https://medlineplus.gov/genetics/gene/plcg2 - Genetics