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Results 1 - 10 of 10 for Autoinflammatory syndrome
  1. Familial cold autoinflammatory syndrome type 2 
    Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain. These episodes can ... in some individuals.In people with familial cold autoinflammatory syndrome type 2, the most common symptom that occurs ...
    https://medlineplus.gov/...ial-cold-autoinflammatory-syndrome-type-2 - Genetics
  2. Nakajo-Nishimura syndrome 
    ... condition. ALDD Autoinflammation, lipodystrophy, and dermatosis syndrome Japanese autoinflammatory syndrome with lipodystrophy JASL Nakajo syndrome NKJO Genetic Testing ...
    https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome - Genetics
  3. PLCG2-associated antibody deficiency and immune dysregulation 
    ... associated FACU Familial atypical cold urticaria Familial cold autoinflammatory syndrome 3 Familial cold urticaria with common variable immunodeficiency ...
    https://medlineplus.gov/...ibody-deficiency-and-immune-dysregulation - Genetics
  4. Otulipenia 
    ... Autoinflammation, panniculitis, and dermatosis syndrome ORAS OTULIN-related autoinflammatory syndrome Genetic Testing Registry: Autoinflammation, panniculitis, and dermatosis syndrome, ...
    https://medlineplus.gov/genetics/condition/otulipenia - Genetics
  5. Cryopyrin-associated periodic syndromes 
    ... group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and ... urticaria AND deafness Genetic Testing Registry: Familial cold autoinflammatory syndrome 1 Cryopyrin-associated periodic syndrome National Organization for ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  6. VEXAS syndrome 
    ... cause the disorder. vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome VEXAS National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  7. Yao syndrome 
    ... the disease. NAID NOD2-associated AID NOD2-associated autoinflammatory disease YAOS Genetic Testing Registry: Yao syndrome National Organization for Rare Disorders (NORD) YAO SYNDROME; ...
    https://medlineplus.gov/genetics/condition/yao-syndrome - Genetics
  8. Majeed syndrome 
    ... PubMed Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020 Nov;146(5):925-937. doi: 10.1016/j.jaci.2020.08.017. Citation on PubMed
    https://medlineplus.gov/genetics/condition/majeed-syndrome - Genetics
  9. Mevalonate kinase deficiency 
    ... kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D ... kinase deficiency and autoinflammatory disorders. N Engl J Med. 2007 Jun 28; ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  10. STING-associated vasculopathy with onset in infancy 
    ... result from abnormally increased inflammation are known as autoinflammatory diseases.The signs and symptoms of SAVI begin ... R. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014 Aug 7;371( ...
    https://medlineplus.gov/...ciated-vasculopathy-with-onset-in-infancy - Genetics