クリオピリン関連周期熱症候群 [DS:H00282]

Hoffman HM, Wanderer AA, Broide DH

Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.

J Allergy Clin Immunol 108:615-20 (2001)
DOI:10.1067/mai.2001.118790

Gandhi C, Healy C, Wanderer AA, Hoffman HM

Familial atypical cold urticaria: description of a new hereditary disease.

J Allergy Clin Immunol 124:1245-50 (2009)
DOI:10.1016/j.jaci.2009.09.035

Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

Hum Genet 112:209-16 (2003)
DOI:10.1007/s00439-002-0860-x

Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasiglie D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

Arthritis Rheum 63:830-9 (2011)
DOI:10.1002/art.30170

Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K

An inherited mutation in NLRC4 causes autoinflammation in human and mice.

J Exp Med 211:2385-96 (2014)
DOI:10.1084/jem.20141091

Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

N Engl J Med 366:330-8 (2012)
DOI:10.1056/NEJMoa1102140