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Periodic fever syndrome
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<h2 id="individual-periodic-fever-syndromes">Individual periodic fever syndromes</h2> <table><tbody><tr><th>Name</th><th><a href="/facts/OMIM/PkW3zCCU">OMIM</a></th><th>Gene</th></tr><tr><td><a href="/facts/Familial_Mediterranean_fever/fRRPvWdE">Familial Mediterranean fever</a> (FMF)</td><td><a href="https://omim.org/entry/249100">249100</a></td><td><a href="/facts/MEFV/EYSTEw7t">MEFV</a></td></tr><tr><td><a href="/facts/Hyperimmunoglobulinemia_D_with_recurrent_fever/lqGQHF5E">Hyperimmunoglobulinemia D with recurrent fever</a> (HIDS). This is now (along with <a href="/facts/Mevalonic_aciduria/lqGQHF5E">mevalonic aciduria</a>) defined as a <a href="/facts/Mevalonate_kinase_deficiency/lqGQHF5E">mevalonate kinase deficiency</a><a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a></td><td><a href="https://omim.org/entry/260920">260920</a></td><td><a href="/facts/MVK/wData1cm">MVK</a></td></tr><tr><td><a href="/facts/TNF_receptor_associated_periodic_syndrome/65zmyjbs">TNF receptor associated periodic syndrome</a> (TRAPS)</td><td><a href="https://omim.org/entry/142680">142680</a></td><td><a href="/facts/TNFRSF1A/vAF53urQ">TNFRSF1A</a></td></tr><tr><td><a href="/facts/Cryopyrin-associated_periodic_syndrome/ChNnUMuN">CAPS</a>: <a href="/facts/Muckle%25E2%2580%2593Wells_syndrome/GPuk6QxE">Muckle–Wells syndrome</a> (urticaria deafness amyloidosis)</td><td><a href="https://omim.org/entry/191900">191900</a></td><td><a href="/facts/NLRP3/6z5AIMjU">NLRP3</a></td></tr><tr><td><a href="/facts/Cryopyrin-associated_periodic_syndrome/ChNnUMuN">CAPS</a>: <a href="/facts/Familial_cold_urticaria/dbbHLcYP">Familial cold urticaria</a></td><td><a href="https://omim.org/entry/120100">120100</a></td><td><a href="/facts/NLRP3/6z5AIMjU">NLRP3</a></td></tr><tr><td><a href="/facts/Cryopyrin-associated_periodic_syndrome/ChNnUMuN">CAPS</a>: <a href="/facts/Neonatal_onset_multisystem_inflammatory_disease/uezDKXTg">Neonatal onset multisystem inflammatory disease</a> (NOMID)</td><td><a href="https://omim.org/entry/607115">607115</a></td><td><a href="/facts/NLRP3/6z5AIMjU">NLRP3</a></td></tr><tr><td><a href="/facts/Periodic_fever%2c_aphthous_stomatitis%2c_pharyngitis_and_adenitis/xV6FEpGK">Periodic fever, aphthous stomatitis, pharyngitis and adenitis</a> (PFAPA syndrome)</td><td>none</td><td>?</td></tr><tr><td><a href="/facts/Blau_syndrome/M0YswUzd">Blau syndrome</a></td><td><a href="https://omim.org/entry/186580">186580</a></td><td><a href="/facts/NOD2/zhx0pnLD">NOD2</a></td></tr><tr><td><a href="/facts/Pyogenic_sterile_arthritis%2c_pyoderma_gangrenosum%2c_acne/VtQKYTDz">Pyogenic sterile arthritis, pyoderma gangrenosum, acne</a> (PAPA)</td><td><a href="https://omim.org/entry/604416">604416</a></td><td><a href="/facts/PSTPIP1/LEmC4uJ4">PSTPIP1</a></td></tr><tr><td><a href="/facts/Deficiency_of_the_interleukin-1%25E2%2580%2593receptor_antagonist/a2oK1p2E">Deficiency of the interleukin-1–receptor antagonist</a> (DIRA)</td><td><a href="https://omim.org/entry/612852">612852</a></td><td><a href="/facts/IL1RN/du2Qzv2y">IL1RN</a></td></tr><tr><td><a href="/facts/Yao_syndrome/JSndJVud">Yao syndrome</a> (YAOS)</td><td><a href="https://omim.org/entry/617321">617321</a></td><td><a href="/facts/NOD2/zhx0pnLD">NOD2</a></td></tr><tr><td><a href="/facts/ROSAH_syndrome/pnhnrLsm">Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache syndrome</a> (ROSAH syndrome)<a class="footnote-ref" id="fnref:6" href="#fn:6"><sup>6</sup></a></td><td><a href="https://omim.org/entry/614979">614979</a></td><td><a href="/facts/ALPK1/409qzqBo">ALPK1</a></td></tr></tbody></table> <h2 id="see-also">See also</h2> <ul><li><a href="/facts/Kawasaki_disease/CJBMvM0L">Kawasaki disease</a> - possible autoinflammatory mechanism<a class="footnote-ref" id="fnref:7" href="#fn:7"><sup>7</sup></a></li> <li><a href="/facts/Multisystem_inflammatory_syndrome_in_children/b6kbnQMH">Multisystem inflammatory syndrome in children</a></li> <li><a href="/facts/List_of_cutaneous_conditions/U58kszg2">List of cutaneous conditions</a></li></ul> <h2 id="further-reading">Further reading</h2> <ul><li><a href="/facts/Hobart_Reimann/WVd8pJEF">Hobart A. Reimann</a>, <i>Periodic Disease: a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia.</i> JAMA, 1948.<a class="footnote-ref" id="fnref:8" href="#fn:8"><sup>8</sup></a></li> <li>Hobart A Reimann, <i>Periodic Disease: periodic fever, periodic abdominalgia, cyclic neutropenia, intermittent arthralgia, angioneurotic edema, anaphylactoid purpura and periodic paralysis.</i> JAMA, 1949.<a class="footnote-ref" id="fnref:9" href="#fn:9"><sup>9</sup></a></li> <li>Hobart A Reimann, Moadié, J; Semerdjian, S; Sahyoun, PF, <i>Periodic Peritonitis—Heredity & Pathology: report of seventy-two cases.</i> JAMA, 1954.<a class="footnote-ref" id="fnref:10" href="#fn:10"><sup>10</sup></a></li> <li>Hobart A Reimann, <i>Periodic fever, an entity: A collection of 52 cases.</i> AmJMedSci, 1962.<a class="footnote-ref" id="fnref:11" href="#fn:11"><sup>11</sup></a></li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="http://niams.nih.gov/Health_Info/Autoinflammatory/default.asp">Understanding Autoinflammatory Diseases</a> - US National Institute of Arthritis and Musculoskeletal and Skin Diseases</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Masters SL, Simon A, Aksentijevich I, et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease*. Annu Rev Immunol 2009;27(1):621–68 <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Stojanov S, Kastner DL (2005). "Familial autoinflammatory diseases: genetics, pathogenesis and treatment". Curr Opin Rheumatol. 17 (5): 586–99. doi:10.1097/bor.0000174210.78449.6b. PMID 16093838. S2CID 25948105. <a href="https://zenodo.org/record/1234873" target="_blank">https://zenodo.org/record/1234873</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>Hausmann, JS; Dedeoglu, F (July 2013). "Autoinflammatory diseases in pediatrics". Dermatologic Clinics. 31 (3): 481–94. doi:10.1016/j.det.2013.04.003. PMID 23827250. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Jamilloux, Y; Bourdonnay, E; Gerfaud-Valentin, M; Py, BF; Lefeuvre, L; Barba, T; Broussolle, C; Henry, T; Sève, P (14 September 2016). "[Interleukin-1, inflammasome and autoinflammatory diseases]". La Revue de Médecine Interne. 39 (4): 233–239. doi:10.1016/j.revmed.2016.07.007. PMID 27639913. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Houten SM, Frenkel J, Waterham HR (2003). "Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation". Cell. Mol. Life Sci. 60 (6): 1118–34. doi:10.1007/s00018-003-2296-4. PMC 11146049. PMID 12861380. S2CID 23745920. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146049" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146049</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>Kozycki CT, Kodati S, Huryn L, et al. (2022). "Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome". Annals of the Rheumatic Diseases. 81 (10): 1453–1464. doi:10.1136/annrheumdis-2022-222629. ISSN 0003-4967. PMC 9484401. PMID 35868845. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484401" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484401</a> <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> <li id="fn:7"><p>Marrani E, Burns JC, Cimaz R (2018). "How Should We Classify Kawasaki Disease?". Frontiers in Immunology. 9: 2974. doi:10.3389/fimmu.2018.02974. PMC 6302019. PMID 30619331. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302019" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302019</a> <a href="#fnref:7" class="footnote-back-ref">↩</a></p></li> <li id="fn:8"><p>Reimann, Hobart A (1948). "Periodic Disease: a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia". JAMA. 136 (4): 239–244. doi:10.1001/jama.1948.02890210023004. PMID 18920089. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:8" class="footnote-back-ref">↩</a></p></li> <li id="fn:9"><p>Reimann, Hobart A (1949). "Periodic Disease: periodic fever, periodic abdominalgia, cyclic neutropenia, intermittent arthralgia, angioneurotic edema, anaphylactoid purpura and periodic paralysis". JAMA. 141 (3): 175–183. doi:10.1001/jama.1949.02910030005002. PMID 18139542. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:9" class="footnote-back-ref">↩</a></p></li> <li id="fn:10"><p>Reimann, Hobart A; Moadié, J; Semerdjian, S; Sahyoun, PF (1954). "Periodic Peritonitis—Heredity and Pathology". JAMA. 154 (15): 1254–1259. doi:10.1001/jama.1954.02940490018005. PMID 13151833. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:10" class="footnote-back-ref">↩</a></p></li> <li id="fn:11"><p>Reimann, Hobart A (1962). "Periodic fever, an entity: A collection of 52 cases". The American Journal of the Medical Sciences. 243 (Feb): 162–74. doi:10.1097/00000441-196202000-00006. PMID 14491227. S2CID 27897376. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:11" class="footnote-back-ref">↩</a></p></li> </ol>