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Cryopyrin associated periodic syndrome(CAPS)

MedGen UID:
412215
•Concept ID:
C2316212
•
Disease or Syndrome
Synonym: CAPS
SNOMED CT: Cryopyrin associated periodic syndrome (430079001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016168
Orphanet: ORPHA208650

Definition

Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms). [from ORDO]

Professional guidelines

PubMed

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM
Ann Rheum Dis 2017 Jun;76(6):942-947. Epub 2016 Oct 4 doi: 10.1136/annrheumdis-2016-209686. PMID: 27707729
A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.
Coll RC, Robertson AA, Chae JJ, Higgins SC, Muñoz-Planillo R, Inserra MC, Vetter I, Dungan LS, Monks BG, Stutz A, Croker DE, Butler MS, Haneklaus M, Sutton CE, Núñez G, Latz E, Kastner DL, Mills KH, Masters SL, Schroder K, Cooper MA, O'Neill LA
Nat Med 2015 Mar;21(3):248-55. Epub 2015 Feb 16 doi: 10.1038/nm.3806. PMID: 25686105Free PMC Article
Treatment for cryopyrin-associated periodic syndrome.
Arch Dis Child 2009 Nov;94(11):840. doi: 10.1136/adc.2009.170266. PMID: 19846997

Recent clinical studies

Etiology

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, Shiraki M, Ohnishi H, Yasumura J, Kawabe T, Miyamae T, Matsubara T, Arakawa N, Ishige T, Takizawa T, Shimbo A, Shimizu M, Kimura N, Maeda Y, Maruyama Y, Shigemura T, Furuta J, Sato S, Tanaka H, Izumikawa M, Yamamura M, Hasegawa T, Kaneko H, Nakagishi Y, Nakano N, Iida Y, Nakamura T, Wakiguchi H, Hoshina T, Kawai T, Murakami K, Akizuki S, Morinobu A, Ohmura K, Eguchi K, Sonoda M, Ishimura M, Furuno K, Kashiwado M, Mori M, Kawahata K, Hayama K, Shimoyama K, Sasaki N, Ito T, Umebayashi H, Omori T, Nakamichi S, Dohmoto T, Hasegawa Y, Kawashima H, Watanabe S, Taguchi Y, Nakaseko H, Iwata N, Kohno H, Ando T, Ito Y, Kataoka Y, Saeki T, Kaneko U, Murase A, Hattori S, Nozawa T, Nishimura K, Nakano R, Watanabe M, Yashiro M, Nakamura T, Komai T, Kato K, Honda Y, Hiejima E, Yonezawa A, Bessho K, Okada S, Ohara O, Takita J, Yasumi T, Nishikomori R; Japan CAPS Working Group
Arthritis Rheumatol 2024 Jun;76(6):949-962. Epub 2024 Mar 7 doi: 10.1002/art.42808. PMID: 38268504
Cold-Induced Urticaria in Children.
De Luca E, Guerriero C, Capozio G, Peris K, Rigante D
Skinmed 2021;19(5):339-348. Epub 2021 Oct 1 PMID: 34861913
Monogenic Auto-inflammatory Syndromes: A Review of the Literature.
Azizi G, Khadem Azarian S, Nazeri S, Mosayebian A, Ghiasy S, Sadri G, Mohebi A, Khan Nazer NH, Afraei S, Mirshafiey A
Iran J Allergy Asthma Immunol 2016 Dec;15(6):430-444. PMID: 28129677
Autoinflammatory Skin Disorders: The Inflammasomme in Focus.
Gurung P, Kanneganti TD
Trends Mol Med 2016 Jul;22(7):545-564. Epub 2016 Jun 3 doi: 10.1016/j.molmed.2016.05.003. PMID: 27267764Free PMC Article
Renal amyloidosis in children.
Bilginer Y, Akpolat T, Ozen S
Pediatr Nephrol 2011 Aug;26(8):1215-27. Epub 2011 Mar 1 doi: 10.1007/s00467-011-1797-x. PMID: 21360109Free PMC Article

Diagnosis

Cracking the NLRP3 code: Pioneering precision medicine for inflammation.
Weber ANR, Tortola MM, Kuemmerle-Deschner JB
J Exp Med 2024 May 6;221(5) Epub 2024 Mar 27 doi: 10.1084/jem.20240221. PMID: 38536100Free PMC Article
Cryopyrin-Associated Periodic Syndrome in Neuro-Ophthalmology.
Harish Bindiganavile S, Beres S, Bhat N, Lee AG
J Neuroophthalmol 2021 Sep 1;41(3):e297-e299. doi: 10.1097/WNO.0000000000001080. PMID: 32868579
Lessons From the Misdiagnosis of Cryopyrin-Associated Periodic Syndrome as an Infection: Importance of an Early and Precise Diagnosis.
Li T, Wu J, Ruan Q, Zhang W, Zhang W, Liu P, Pei N, Xi X, Lu S, Jiang N
J Clin Rheumatol 2021 Dec 1;27(8S):S485-S487. doi: 10.1097/RHU.0000000000001179. PMID: 31524846Free PMC Article
Autoinflammatory Syndromes in Children.
Pepper RJ, Lachmann HJ
Indian J Pediatr 2016 Mar;83(3):242-7. Epub 2016 Jan 29 doi: 10.1007/s12098-015-1985-y. PMID: 26821543
Cryopyrin-associated periodic syndrome.
Giat E, Lidar M
Isr Med Assoc J 2014 Oct;16(10):659-61. PMID: 25438464

Therapy

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, Shiraki M, Ohnishi H, Yasumura J, Kawabe T, Miyamae T, Matsubara T, Arakawa N, Ishige T, Takizawa T, Shimbo A, Shimizu M, Kimura N, Maeda Y, Maruyama Y, Shigemura T, Furuta J, Sato S, Tanaka H, Izumikawa M, Yamamura M, Hasegawa T, Kaneko H, Nakagishi Y, Nakano N, Iida Y, Nakamura T, Wakiguchi H, Hoshina T, Kawai T, Murakami K, Akizuki S, Morinobu A, Ohmura K, Eguchi K, Sonoda M, Ishimura M, Furuno K, Kashiwado M, Mori M, Kawahata K, Hayama K, Shimoyama K, Sasaki N, Ito T, Umebayashi H, Omori T, Nakamichi S, Dohmoto T, Hasegawa Y, Kawashima H, Watanabe S, Taguchi Y, Nakaseko H, Iwata N, Kohno H, Ando T, Ito Y, Kataoka Y, Saeki T, Kaneko U, Murase A, Hattori S, Nozawa T, Nishimura K, Nakano R, Watanabe M, Yashiro M, Nakamura T, Komai T, Kato K, Honda Y, Hiejima E, Yonezawa A, Bessho K, Okada S, Ohara O, Takita J, Yasumi T, Nishikomori R; Japan CAPS Working Group
Arthritis Rheumatol 2024 Jun;76(6):949-962. Epub 2024 Mar 7 doi: 10.1002/art.42808. PMID: 38268504
A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.
Coll RC, Robertson AA, Chae JJ, Higgins SC, Muñoz-Planillo R, Inserra MC, Vetter I, Dungan LS, Monks BG, Stutz A, Croker DE, Butler MS, Haneklaus M, Sutton CE, Núñez G, Latz E, Kastner DL, Mills KH, Masters SL, Schroder K, Cooper MA, O'Neill LA
Nat Med 2015 Mar;21(3):248-55. Epub 2015 Feb 16 doi: 10.1038/nm.3806. PMID: 25686105Free PMC Article
Cryopyrin-associated periodic syndrome.
Giat E, Lidar M
Isr Med Assoc J 2014 Oct;16(10):659-61. PMID: 25438464
What do autoinflammatory syndromes teach about common cutaneous diseases such as pyoderma gangrenosum? A commentary.
Butler D, Shinkai K
Dermatol Clin 2013 Jul;31(3):427-35. Epub 2013 May 10 doi: 10.1016/j.det.2013.04.004. PMID: 23827245
Treatment for cryopyrin-associated periodic syndrome.
Arch Dis Child 2009 Nov;94(11):840. doi: 10.1136/adc.2009.170266. PMID: 19846997

Prognosis

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Miyamoto T, Izawa K, Masui S, Yamazaki A, Yamasaki Y, Matsubayashi T, Shiraki M, Ohnishi H, Yasumura J, Kawabe T, Miyamae T, Matsubara T, Arakawa N, Ishige T, Takizawa T, Shimbo A, Shimizu M, Kimura N, Maeda Y, Maruyama Y, Shigemura T, Furuta J, Sato S, Tanaka H, Izumikawa M, Yamamura M, Hasegawa T, Kaneko H, Nakagishi Y, Nakano N, Iida Y, Nakamura T, Wakiguchi H, Hoshina T, Kawai T, Murakami K, Akizuki S, Morinobu A, Ohmura K, Eguchi K, Sonoda M, Ishimura M, Furuno K, Kashiwado M, Mori M, Kawahata K, Hayama K, Shimoyama K, Sasaki N, Ito T, Umebayashi H, Omori T, Nakamichi S, Dohmoto T, Hasegawa Y, Kawashima H, Watanabe S, Taguchi Y, Nakaseko H, Iwata N, Kohno H, Ando T, Ito Y, Kataoka Y, Saeki T, Kaneko U, Murase A, Hattori S, Nozawa T, Nishimura K, Nakano R, Watanabe M, Yashiro M, Nakamura T, Komai T, Kato K, Honda Y, Hiejima E, Yonezawa A, Bessho K, Okada S, Ohara O, Takita J, Yasumi T, Nishikomori R; Japan CAPS Working Group
Arthritis Rheumatol 2024 Jun;76(6):949-962. Epub 2024 Mar 7 doi: 10.1002/art.42808. PMID: 38268504
Similarities and differences in autoinflammatory diseases with urticarial rash, cryopyrin-associated periodic syndrome and Schnitzler syndrome.
Matsuda T, Takimoto-Ito R, Lipsker D, Kambe N
Allergol Int 2023 Jul;72(3):385-393. Epub 2023 Mar 10 doi: 10.1016/j.alit.2023.02.005. PMID: 36906447
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.
Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M
Orphanet J Rare Dis 2016 Dec 7;11(1):167. doi: 10.1186/s13023-016-0542-8. PMID: 27927236Free PMC Article
CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.
Kuemmerle-Deschner JB
Semin Immunopathol 2015 Jul;37(4):377-85. Epub 2015 May 12 doi: 10.1007/s00281-015-0491-7. PMID: 25963520
What do autoinflammatory syndromes teach about common cutaneous diseases such as pyoderma gangrenosum? A commentary.
Butler D, Shinkai K
Dermatol Clin 2013 Jul;31(3):427-35. Epub 2013 May 10 doi: 10.1016/j.det.2013.04.004. PMID: 23827245

Clinical prediction guides

Optical coherence tomography assessment of disease activity in cryopyrin-associated periodic syndrome.
Mulazzani E, Böhm L, Christmann T, Krumbholz M, Kümpfel T, Havla J
Eur J Neurol 2024 Jul;31(7):e16301. Epub 2024 Apr 16 doi: 10.1111/ene.16301. PMID: 38628041Free PMC Article
NLRP3 licenses NLRP11 for inflammasome activation in human macrophages.
Gangopadhyay A, Devi S, Tenguria S, Carriere J, Nguyen H, Jäger E, Khatri H, Chu LH, Ratsimandresy RA, Dorfleutner A, Stehlik C
Nat Immunol 2022 Jun;23(6):892-903. Epub 2022 May 27 doi: 10.1038/s41590-022-01220-3. PMID: 35624206Free PMC Article
Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome.
Kuemmerle-Deschner JB, Gautam R, George AT, Raza S, Lomax KG, Hur P
RMD Open 2020 Jul;6(2) doi: 10.1136/rmdopen-2020-001227. PMID: 32723831Free PMC Article
Pharmacological treatment options for cryopyrin-associated periodic syndromes.
Landmann EC, Walker UA
Expert Rev Clin Pharmacol 2017 Aug;10(8):855-864. Epub 2017 Jun 20 doi: 10.1080/17512433.2017.1338946. PMID: 28586272
What do autoinflammatory syndromes teach about common cutaneous diseases such as pyoderma gangrenosum? A commentary.
Butler D, Shinkai K
Dermatol Clin 2013 Jul;31(3):427-35. Epub 2013 May 10 doi: 10.1016/j.det.2013.04.004. PMID: 23827245

Recent systematic reviews

Pregnancy occurring in AA amyloidosis: a series of 27 patients including 3 new French cases.
Delplanque M, Savey L, Cognard N, Boffa JJ, Buob D, Georgin-Lavialle S
J Nephrol 2024 Dec;37(9):2509-2519. Epub 2024 Sep 12 doi: 10.1007/s40620-024-02038-y. PMID: 39266930
AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
Rodrigues F, Cuisset L, Cador-Rousseau B, Giurgea I, Neven B, Buob D, Quartier P, Hachulla E, Lequerré T, Cam G, Boursier G, Hervieu V, Grateau G, Georgin-Lavialle S
Rheumatology (Oxford) 2022 Nov 28;61(12):4827-4834. doi: 10.1093/rheumatology/keac145. PMID: 35262642
Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome.
Kuemmerle-Deschner JB, Gautam R, George AT, Raza S, Lomax KG, Hur P
RMD Open 2020 Jul;6(2) doi: 10.1136/rmdopen-2020-001227. PMID: 32723831Free PMC Article
Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM
Ann Rheum Dis 2017 Jun;76(6):942-947. Epub 2016 Oct 4 doi: 10.1136/annrheumdis-2016-209686. PMID: 27707729

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