Identification of a Homozygous PSTPIP1 Mutation in a Patient With a PAPA-Like Syndrome Responding to Canakinumab Treatment

Geusau, Alexandra; Mothes‐Luksch, Nadine; Nahavandi, Hesam; Pickl, Winfried F.; Wise, Carol A.; Pourpak, Zahra; Ponweiser, Elisabeth; Eckhart, Leopold; Sunder‐Plaßmann, Raute

doi:10.1001/2013.jamadermatol.717

Cited by 77 publications

(58 citation statements)

References 24 publications

(32 reference statements)

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“…Intra-articular as well as parenteral corticosteroids are useful in the management of the articular and cutaneous manifestations, and prolonged courses of high doses are often required to control the disease, leading to significant side effects and medication-associated morbidity (57–62). TNF inhibitors (58, 59, 63–66), alone or in combination with IL-1-blocking agents ( Supplemental Table 1 ), improve disease control, but in most instances high doses of corticosteroids are used concomitantly (59, 60, 64). Responses to IL-1 ( Supplemental Table 1 ) and TNF inhibitors are incomplete, suggesting the contribution of additional inflammatory pathways to the disease pathogenesis (64).…”

Section: Targeting Il-1 In Autoinflammatory Diseasesmentioning

confidence: 99%

IL-1 Blockade in Autoinflammatory Syndromes

2014

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Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. Pathogenic variants in two interleukin-1 (IL-1)–regulating genes, NLRP3 and IL1RN, cause two severe and early-onset autoinflammatory syndromes, CAPS (cryopyrin associated periodic syndromes) and DIRA (deficiency of IL-1 receptor antagonist). The discovery of the mutations that cause CAPS and DIRA led to clinical and basic research that uncovered the key role of IL-1 in an extended spectrum of immune dysregulatory conditions. NLRP3 encodes cryopyrin, an intracellular “molecular sensor” that forms a multimolecular platform, the NLRP3 inflammasome, which links “danger recognition” to the activation of the proinflammatory cytokine IL-1β. The success and safety profile of drugs targeting IL-1 in the treatment of CAPS and DIRA have encouraged their wider use in other autoinflammatory syndromes including the classic hereditary periodic fever syndromes (familial Mediterranean fever, TNF receptor–associated periodic syndrome, and hyperimmunoglobulinemia D with periodic fever syndrome) and additional immune dysregulatory conditions that are not genetically well defined, including Still’s, Behcet’s, and Schnitzler diseases. The fact that the accumulation of metabolic substrates such as monosodium urate, ceramide, cholesterol, and glucose can trigger the NLRP3 inflammasome connects metabolic stress to IL-1β-mediated inflammation and provides a rationale for therapeutically targeting IL-1 in prevalent diseases such as gout, diabetes mellitus, and coronary artery disease.

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Section: Targeting Il-1 In Autoinflammatory Diseasesmentioning

confidence: 99%

IL-1 Blockade in Autoinflammatory Syndromes

2014

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“…25 Patients with autoinflammatory syndromes, such as pyogenic arthritis, PG, and acne syndrome have been reported to carry the proline-serine-threonine phosphatase interacting protein 1 gene, also called CD2 antigen-binding protein-1. [26][27][28] However, the likely cause of postoperative PG is a multifactorial response in a predisposed individual.…”

Section: Pathophysiologymentioning

confidence: 99%

Postoperative pyoderma gangrenosum (PG): The Mayo Clinic experience of 20 years from 1994 through 2014

Tolkachjov

Fahy

Wetter

et al. 2015

Journal of the American Academy of Dermatology

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“…Pyoderma gangrenosum is treated with topical or systemic immunosuppressant drugs. In addition, a few reports showed that anti-TNF-α and anti-IL-1 agents are efective in the treatment [39].…”

Section: Acne and Acneiform Eruptionsmentioning

confidence: 99%

Acne-Associated Syndromes

Emiroğlu¹

2017

Acne and Acneiform Eruptions

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Introduction: Acne, a chronic inlammatory disorder of pilosebaceous unit, is characterized by comedones, pustules, papules, nodules, cysts, and scars. It afects nearly 85% of adolescents. High sebaceous gland secretion, follicular hyperproliferation, high androgen efects, propionibacterium acnes colonization, and inlammation are major pathogenic factors. Systemic disease or syndromes that are associated with acne are less commonly deined. Therefore, these syndromes may not be usually recognized easily.Research methods: Acne-associated syndromes prove the nature of these diseases and are indicative of pathogenesis of acne. Polycystic ovary (PCOS), synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO), hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN), pyogenic arthritis-pyoderma gangrenosum-acne (PAPA), pyoderma gangrenosum-acne vulgaris-hidradenitis suppurativa-ankylosing spondylitis (PASS), pyoderma gangrenosum-acne conglobate-hidradenitis suppurativa (PASH), seborrhea-acne-hirsutism-androgenic alopecia (SAHA), and Apert syndromes are wellknown acne-associated syndromes. Endocrine disorders (insulin resistance, obesity, hyperandrogenism, etc.) can be commonly seen in these syndromes, and there are too many unknown factors that must be investigated in the formation of these syndromes.Conclusion-key results: If we are aware of the component of these syndromes, we will recognize those easily during dermatological examination. Knowledge of clinical manifestations and molecular mechanisms of these syndromes will help us to understand acne pathogenesis. When acne pathogenesis is explained clearly, new treatment modalities will be developed.

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Identification of a Homozygous PSTPIP1 Mutation in a Patient With a PAPA-Like Syndrome Responding to Canakinumab Treatment

Cited by 77 publications

References 24 publications

IL-1 Blockade in Autoinflammatory Syndromes

IL-1 Blockade in Autoinflammatory Syndromes

Postoperative pyoderma gangrenosum (PG): The Mayo Clinic experience of 20 years from 1994 through 2014

Acne-Associated Syndromes

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