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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

Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Hansmann S, Lainka E, Horneff G, Holzinger D, Rieber N, Jansson AF, Rösen-Wolff A, Erbis G, Prelog M, Brunner J, Benseler SM, Kuemmerle-Deschner JB
Pediatr Rheumatol Online J 2020 Feb 17;18(1):17. doi: 10.1186/s12969-020-0409-3. PMID: 32066461Free 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
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

Recent clinical studies

Etiology

The Clinical Chameleon of Autoinflammatory Diseases in Children.
Sangiorgi E, Rigante D
Cells 2022 Jul 18;11(14) doi: 10.3390/cells11142231. PMID: 35883675Free PMC Article
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
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Hansmann S, Lainka E, Horneff G, Holzinger D, Rieber N, Jansson AF, Rösen-Wolff A, Erbis G, Prelog M, Brunner J, Benseler SM, Kuemmerle-Deschner JB
Pediatr Rheumatol Online J 2020 Feb 17;18(1):17. doi: 10.1186/s12969-020-0409-3. PMID: 32066461Free PMC Article
Recognising and understanding cryopyrin-associated periodic syndrome in adults.
Williams R, Hawkins P, Lane T
Br J Nurs 2019 Oct 10;28(18):1180-1186. doi: 10.12968/bjon.2019.28.18.1180. PMID: 31597069
Targeting cytokines to treat autoinflammatory diseases.
Hausmann JS
Clin Immunol 2019 Sep;206:23-32. Epub 2018 Oct 28 doi: 10.1016/j.clim.2018.10.016. PMID: 30394352

Diagnosis

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.
Moltrasio C, Romagnuolo M, Marzano AV
Front Immunol 2022;13:1007705. Epub 2022 Oct 6 doi: 10.3389/fimmu.2022.1007705. PMID: 36275641Free PMC Article
The Clinical Chameleon of Autoinflammatory Diseases in Children.
Sangiorgi E, Rigante D
Cells 2022 Jul 18;11(14) doi: 10.3390/cells11142231. PMID: 35883675Free PMC Article
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Hansmann S, Lainka E, Horneff G, Holzinger D, Rieber N, Jansson AF, Rösen-Wolff A, Erbis G, Prelog M, Brunner J, Benseler SM, Kuemmerle-Deschner JB
Pediatr Rheumatol Online J 2020 Feb 17;18(1):17. doi: 10.1186/s12969-020-0409-3. PMID: 32066461Free PMC Article
Autoinflammatory Diseases with Periodic Fevers.
Sag E, Bilginer Y, Ozen S
Curr Rheumatol Rep 2017 Jul;19(7):41. doi: 10.1007/s11926-017-0670-8. PMID: 28631068
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

Therapy

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.
Moltrasio C, Romagnuolo M, Marzano AV
Front Immunol 2022;13:1007705. Epub 2022 Oct 6 doi: 10.3389/fimmu.2022.1007705. PMID: 36275641Free PMC Article
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Hansmann S, Lainka E, Horneff G, Holzinger D, Rieber N, Jansson AF, Rösen-Wolff A, Erbis G, Prelog M, Brunner J, Benseler SM, Kuemmerle-Deschner JB
Pediatr Rheumatol Online J 2020 Feb 17;18(1):17. doi: 10.1186/s12969-020-0409-3. PMID: 32066461Free PMC Article
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
Cryopyrin-associated periodic syndrome.
Posch C, Kaulfersch W, Rappersberger K
Pediatr Dermatol 2014 Mar-Apr;31(2):228-31. Epub 2012 Aug 14 doi: 10.1111/j.1525-1470.2012.01812.x. PMID: 22891689

Prognosis

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
Neutrophilic urticarial dermatosis: an entity bridging monogenic and polygenic autoinflammatory disorders, and beyond.
Gusdorf L, Lipsker D
J Eur Acad Dermatol Venereol 2020 Apr;34(4):685-690. Epub 2019 Oct 28 doi: 10.1111/jdv.15984. PMID: 31562783
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome.
Kilic H, Sahin S, Duman C, Adrovic A, Barut K, Turanli ET, Yildirim SR, Kizilkilic O, Kasapcopur O, Saltik S
Eur J Paediatr Neurol 2019 May;23(3):466-472. Epub 2019 Mar 28 doi: 10.1016/j.ejpn.2019.03.006. PMID: 30967326
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

Clinical prediction guides

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
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
Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS).
Mamoudjy N, Maurey H, Marie I, Koné-Paut I, Deiva K
Orphanet J Rare Dis 2017 Feb 14;12(1):33. doi: 10.1186/s13023-017-0589-1. PMID: 28196516Free PMC Article
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
Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome.
Kuemmerle-Deschner JB, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weißbarth-Riedel E, Schuetz C, Kallinich T, Krause K, Rietschel C, Horneff G, Benseler SM
Rheumatology (Oxford) 2016 Apr;55(4):689-96. Epub 2015 Dec 14 doi: 10.1093/rheumatology/kev416. PMID: 26667214

Recent systematic reviews

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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