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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]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Cryopyrin associated periodic syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Genodermatosis
      - Hereditary periodic fever syndrome
        Cryopyrin associated periodic syndrome
        Chronic infantile neurological, cutaneous and articular syndrome
        F12-associated cold autoinflammatory syndrome
        Familial amyloid nephropathy with urticaria AND deafness
        Familial cold autoinflammatory syndrome
        Familial cold autoinflammatory syndrome 1
        Familial cold autoinflammatory syndrome 2
        Familial cold autoinflammatory syndrome 3
        Familial cold autoinflammatory syndrome 4

Follow this link to review classifications for Cryopyrin associated periodic syndrome in Orphanet.

Professional guidelines

PubMed

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

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: 25686105 Free PMC Article

See all (23)

Recent clinical studies

Etiology

Cardiovascular manifestations of monogenic periodic fever syndromes.

Sönmez HE, Bayındır Y, Batu ED
Clin Rheumatol 2023 Oct;42(10):2717-2732. Epub 2023 Jan 9 doi: 10.1007/s10067-023-06504-z. PMID: 36622520

The Clinical Chameleon of Autoinflammatory Diseases in Children.

Sangiorgi E, Rigante D
Cells 2022 Jul 18;11(14) doi: 10.3390/cells11142231. PMID: 35883675 Free 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

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

See all (70)

Diagnosis

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

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

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

Autoinflammatory diseases.

Touitou I, Koné-Paut I
Best Pract Res Clin Rheumatol 2008 Oct;22(5):811-29. doi: 10.1016/j.berh.2008.08.009. PMID: 19028365

See all (105)

Therapy

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

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

Cryopyrin-associated periodic syndrome.

Giat E, Lidar M
Isr Med Assoc J 2014 Oct;16(10):659-61. PMID: 25438464

Anakinra for cryopyrin-associated periodic syndrome.

Koné-Paut I, Galeotti C
Expert Rev Clin Immunol 2014 Jan;10(1):7-18. Epub 2013 Nov 21 doi: 10.1586/1744666X.2014.861325. PMID: 24308832

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

See all (78)

Prognosis

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

Pearls and pitfalls: Cold-induced urticaria.

Mari DC, Banks TA
Allergy Asthma Proc 2020 Jul 1;41(4):301-304. doi: 10.2500/aap.2020.41.200033. PMID: 32605701

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: 27927236 Free 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

See all (23)

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: 35624206 Free 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: 28196516 Free 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: 27927236 Free 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

See all (50)

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: 32723831 Free PMC Article

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

See all (3)

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Cryopyrin associated periodic syndrome(CAPS)

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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