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
Aluri J,
Bach A,
Kaviany S,
Chiquetto Paracatu L,
Kitcharoensakkul M,
Walkiewicz MA,
Putnam CD,
Shinawi M,
Saucier N,
Rizzi EM,
Harmon MT,
Keppel MP,
Ritter M,
Similuk M,
Kulm E,
Joyce M,
de Jesus AA,
Goldbach-Mansky R,
Lee YS,
Cella M,
Kendall PL,
Dinauer MC,
Bednarski JJ,
Bemrich-Stolz C,
Canna SW,
Abraham SM,
Demczko MM,
Powell J,
Jones SM,
Scurlock AM,
De Ravin SS,
Bleesing JJ,
Connelly JA,
Rao VK,
Schuettpelz LG,
Cooper MA
Blood
2021 May 6;137(18):2450-2462.
doi: 10.1182/blood.2020009620.
PMID: 33512449Free 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
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