Familial cold autoinflammatory syndromes

Wasserman SI et al. (1977) Cold urticaria. Recognition and characterization of a neutrophil chemotactic factor which appears in serum during experimental cold challenge.

Gandhi C et. al. (2009) Familial atypical cold urticaria: description of a new hereditary disease.

WITHERSPOON FG et al. (1948) Familial urticaria due to cold.

Hoffman HM et al. (2000) Identification of a locus on chromosome 1q44 for familial cold urticaria.

Ormerod AD et al. (1993) Familial cold urticaria. Investigation of a family and response to stanozolol.

Zip CM et al. (1993) Familial cold urticaria.

None (1981) Exploiting the cold-urticaria model.

Kaplan AP et al. (1981) Idiopathic cold urticaria: in vitro demonstration of histamine release upon challenge of skin biopsies.

Tindall JP et al. (1969) Familial cold urticaria. A generalized reaction involving leukocytosis.

Derbes VJ et al. (1972) Familial cold urticaria.

Doeglas HM et al. (1974) A kindred with familial cold urticaria: linkage analysis.

None (1973) Familial cold urticaria.

Doeglas HM et al. (1974) Familial cold urticaria. Clinical findings.

Ombrello MJ et. al. (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

None (1979) An 'allergy' to cold.

Soter NA et al. (1976) Cold urticaria: release into the circulation of histamine and eosinophil chemotactic factor of anaphylaxis during cold challenge.

Shen M et. al. (2017) NLRP12 autoinflammatory disease: a Chinese case series and literature review.

Xia X et. al. (2016) Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

Vitale A et. al. () Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.

Jru I et. al. (2011) Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

Borghini S et. al. (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

Jru I et. al. (2008) Mutations in NALP12 cause hereditary periodic fever syndromes.

Kitamura A et. al. (2014) An inherited mutation in NLRC4 causes autoinflammation in human and mice.

Vlagopoulos T et al. (1975) Familial cold urticaria.

Hoffman HM et al. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.