U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autoinflammatory syndrome with immune deficiency

MedGen UID:
1843073
Concept ID:
C5681005
Disease or Syndrome
Orphanet: ORPHA290839

Professional guidelines

PubMed

Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW; HLH/MAS task force
Ann Rheum Dis 2023 Oct;82(10):1271-1285. Epub 2023 Jul 24 doi: 10.1136/ard-2023-224123. PMID: 37487610Free PMC Article
Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S
J Clin Immunol 2020 May;40(4):576-591. Epub 2020 Feb 17 doi: 10.1007/s10875-020-00754-1. PMID: 32064578Free PMC Article
La Rosée P, Horne A, Hines M, von Bahr Greenwood T, Machowicz R, Berliner N, Birndt S, Gil-Herrera J, Girschikofsky M, Jordan MB, Kumar A, van Laar JAM, Lachmann G, Nichols KE, Ramanan AV, Wang Y, Wang Z, Janka G, Henter JI
Blood 2019 Jun 6;133(23):2465-2477. Epub 2019 Apr 16 doi: 10.1182/blood.2018894618. PMID: 30992265

Recent clinical studies

Etiology

Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group, Mace E, Milner JD, Ombrello MJ
J Allergy Clin Immunol 2024 Jan;153(1):230-242. Epub 2023 Sep 26 doi: 10.1016/j.jaci.2023.08.036. PMID: 37769878
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA
J Allergy Clin Immunol 2022 Oct;150(4):947-954. Epub 2022 Jun 24 doi: 10.1016/j.jaci.2022.06.009. PMID: 35753512Free PMC Article
Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986Free PMC Article
La Rosée P, Horne A, Hines M, von Bahr Greenwood T, Machowicz R, Berliner N, Birndt S, Gil-Herrera J, Girschikofsky M, Jordan MB, Kumar A, van Laar JAM, Lachmann G, Nichols KE, Ramanan AV, Wang Y, Wang Z, Janka G, Henter JI
Blood 2019 Jun 6;133(23):2465-2477. Epub 2019 Apr 16 doi: 10.1182/blood.2018894618. PMID: 30992265
Grateau G
Acta Clin Belg 2006 Sep-Oct;61(5):264-9. doi: 10.1179/acb.2006.045. PMID: 17240743

Diagnosis

Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA
J Allergy Clin Immunol 2022 Oct;150(4):947-954. Epub 2022 Jun 24 doi: 10.1016/j.jaci.2022.06.009. PMID: 35753512Free PMC Article
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I
J Clin Immunol 2022 Oct;42(7):1473-1507. Epub 2022 Jun 24 doi: 10.1007/s10875-022-01289-3. PMID: 35748970Free PMC Article
Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R
Front Immunol 2021;12:753978. Epub 2021 Nov 17 doi: 10.3389/fimmu.2021.753978. PMID: 34867986Free PMC Article
Canna SW, Marsh RA
Blood 2020 Apr 16;135(16):1332-1343. doi: 10.1182/blood.2019000936. PMID: 32107531Free PMC Article
La Rosée P, Horne A, Hines M, von Bahr Greenwood T, Machowicz R, Berliner N, Birndt S, Gil-Herrera J, Girschikofsky M, Jordan MB, Kumar A, van Laar JAM, Lachmann G, Nichols KE, Ramanan AV, Wang Y, Wang Z, Janka G, Henter JI
Blood 2019 Jun 6;133(23):2465-2477. Epub 2019 Apr 16 doi: 10.1182/blood.2018894618. PMID: 30992265

Therapy

Cohen Tervaert JW, Mohazab N, Redmond D, van Eeden C, Osman M
Expert Rev Clin Immunol 2022 Jan;18(1):15-29. Epub 2022 Jan 5 doi: 10.1080/1744666X.2022.2010546. PMID: 34882509
Malcova H, Strizova Z, Milota T, Striz I, Sediva A, Cebecauerova D, Horvath R
Front Immunol 2020;11:619257. Epub 2021 Feb 1 doi: 10.3389/fimmu.2020.619257. PMID: 33603750Free PMC Article
Hausmann JS
Clin Immunol 2019 Sep;206:23-32. Epub 2018 Oct 28 doi: 10.1016/j.clim.2018.10.016. PMID: 30394352
van der Meer JW, Simon A
Rheumatology (Oxford) 2016 Dec;55(suppl 2):ii23-ii29. doi: 10.1093/rheumatology/kew351. PMID: 27856657
Hashkes PJ, Toker O
Pediatr Clin North Am 2012 Apr;59(2):447-70. doi: 10.1016/j.pcl.2012.03.005. PMID: 22560579

Prognosis

Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Antón J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L, Hernández-Rodríguez J; Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network
Clin Exp Rheumatol 2023 Oct;41(10):2105-2114. Epub 2023 Sep 28 doi: 10.55563/clinexprheumatol/ukegcc. PMID: 37812477
Kobayashi RH, Rigas MT
Am J Health Syst Pharm 2022 Aug 19;79(17):1415-1423. doi: 10.1093/ajhp/zxac139. PMID: 35595720Free PMC Article
Kacar M, Pathak S, Savic S
Rheumatology (Oxford) 2019 Nov 1;58(Suppl 6):vi31-vi43. doi: 10.1093/rheumatology/kez448. PMID: 31769858Free PMC Article
Özen S
Best Pract Res Clin Rheumatol 2018 Apr;32(2):254-260. Epub 2018 Sep 29 doi: 10.1016/j.berh.2018.09.003. PMID: 30527430
Hashkes PJ, Toker O
Pediatr Clin North Am 2012 Apr;59(2):447-70. doi: 10.1016/j.pcl.2012.03.005. PMID: 22560579

Clinical prediction guides

Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group, Mace E, Milner JD, Ombrello MJ
J Allergy Clin Immunol 2024 Jan;153(1):230-242. Epub 2023 Sep 26 doi: 10.1016/j.jaci.2023.08.036. PMID: 37769878
Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Antón J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L, Hernández-Rodríguez J; Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network
Clin Exp Rheumatol 2023 Oct;41(10):2105-2114. Epub 2023 Sep 28 doi: 10.55563/clinexprheumatol/ukegcc. PMID: 37812477
Cinicola BL, Corrente S, Castagnoli R, Lougaris V, Giardino G, Leonardi L, Volpi S, La Torre F, Federici S, Soresina A, Cancrini C, Marseglia GL, Cardinale F; Immunology Task Force of the Italian Society of Pediatric Allergy, Immunology (SIAIP)
Pediatr Allergy Immunol 2022 Jan;33 Suppl 27(Suppl 27):65-68. doi: 10.1111/pai.13633. PMID: 35080318Free PMC Article
Broderick L, Hoffman HM
J Allergy Clin Immunol 2020 Nov;146(5):960-966.e2. Epub 2020 Sep 28 doi: 10.1016/j.jaci.2020.09.019. PMID: 33002514Free PMC Article
Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K
Acta Derm Venereol 2020 Mar 25;100(7):adv00091. doi: 10.2340/00015555-3427. PMID: 32147748Free PMC Article

Recent systematic reviews

Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW; HLH/MAS task force
Ann Rheum Dis 2023 Oct;82(10):1271-1285. Epub 2023 Jul 24 doi: 10.1136/ard-2023-224123. PMID: 37487610Free PMC Article
Shakoory B, Geerlinks A, Wilejto M, Kernan K, Hines M, Romano M, Piskin D, Ravelli A, Sinha R, Aletaha D, Allen C, Bassiri H, Behrens EM, Carcillo J, Carl L, Chatham W, Cohen JI, Cron RQ, Drewniak E, Grom AA, Henderson LA, Horne A, Jordan MB, Nichols KE, Schulert G, Vastert S, Demirkaya E, Goldbach-Mansky R, de Benedetti F, Marsh RA, Canna SW
Arthritis Rheumatol 2023 Oct;75(10):1714-1732. Epub 2023 Jul 24 doi: 10.1002/art.42636. PMID: 37486733Free PMC Article
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Delplanque M, Galicier L, Oziol E, Ducharme-Bénard S, Oksenhendler E, Buob D, Grateau G, Boutboul D, Georgin-Lavialle S
J Allergy Clin Immunol Pract 2021 Feb;9(2):745-752.e1. Epub 2020 Sep 30 doi: 10.1016/j.jaip.2020.09.023. PMID: 33007500
Abd Hamid IJ, Azman NA, Gennery AR, Mangantig E, Hashim IF, Zainudeen ZT
Front Immunol 2020;11:1923. Epub 2020 Aug 26 doi: 10.3389/fimmu.2020.01923. PMID: 32983118Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...