Etiology
Leiding JW,
Vogel TP,
Santarlas VGJ,
Mhaskar R,
Smith MR,
Carisey A,
Vargas-Hernández A,
Silva-Carmona M,
Heeg M,
Rensing-Ehl A,
Neven B,
Hadjadj J,
Hambleton S,
Ronan Leahy T,
Meesilpavikai K,
Cunningham-Rundles C,
Dutmer CM,
Sharapova SO,
Taskinen M,
Chua I,
Hague R,
Klemann C,
Kostyuchenko L,
Morio T,
Thatayatikom A,
Ozen A,
Scherbina A,
Bauer CS,
Flanagan SE,
Gambineri E,
Giovannini-Chami L,
Heimall J,
Sullivan KE,
Allenspach E,
Romberg N,
Deane SG,
Prince BT,
Rose MJ,
Bohnsack J,
Mousallem T,
Jesudas R,
Santos Vilela MMD,
O'Sullivan M,
Pachlopnik Schmid J,
Průhová Š,
Klocperk A,
Rees M,
Su H,
Bahna S,
Baris S,
Bartnikas LM,
Chang Berger A,
Briggs TA,
Brothers S,
Bundy V,
Chan AY,
Chandrakasan S,
Christiansen M,
Cole T,
Cook MC,
Desai MM,
Fischer U,
Fulcher DA,
Gallo S,
Gauthier A,
Gennery AR,
Gonçalo Marques J,
Gottrand F,
Grimbacher B,
Grunebaum E,
Haapaniemi E,
Hämäläinen S,
Heiskanen K,
Heiskanen-Kosma T,
Hoffman HM,
Gonzalez-Granado LI,
Guerrerio AL,
Kainulainen L,
Kumar A,
Lawrence MG,
Levin C,
Martelius T,
Neth O,
Olbrich P,
Palma A,
Patel NC,
Pozos T,
Preece K,
Lugo Reyes SO,
Russell MA,
Schejter Y,
Seroogy C,
Sinclair J,
Skevofilax E,
Suan D,
Suez D,
Szabolcs P,
Velasco H,
Warnatz K,
Walkovich K,
Worth A;
STAT3 GOF Working Group members,
Seppänen MRJ,
Torgerson TR,
Sogkas G,
Ehl S,
Tangye SG,
Cooper MA,
Milner JD,
Forbes Satter LR
J Allergy Clin Immunol
2023 Apr;151(4):1081-1095.
Epub 2022 Oct 11
doi: 10.1016/j.jaci.2022.09.002.
PMID: 36228738Free PMC Article
Bosticardo M,
Pala F,
Notarangelo LD
Eur J Immunol
2021 May;51(5):1028-1038.
Epub 2021 Mar 22
doi: 10.1002/eji.202048880.
PMID: 33682138Free PMC Article
Stohl W,
Schwarting A,
Okada M,
Scheinberg M,
Doria A,
Hammer AE,
Kleoudis C,
Groark J,
Bass D,
Fox NL,
Roth D,
Gordon D
Arthritis Rheumatol
2017 May;69(5):1016-1027.
Epub 2017 Apr 7
doi: 10.1002/art.40049.
PMID: 28118533Free PMC Article
Wong M
J Paediatr Child Health
2015 Feb;51(2):135-9.
doi: 10.1111/jpc.12834.
PMID: 25677480
Roifman CM,
Somech R,
Kavadas F,
Pires L,
Nahum A,
Dalal I,
Grunebaum E
J Allergy Clin Immunol
2012 Jul;130(1):177-83.
Epub 2012 Jun 2
doi: 10.1016/j.jaci.2012.04.029.
PMID: 22664165
Diagnosis
Mitjà O,
Alemany A,
Marks M,
Lezama Mora JI,
Rodríguez-Aldama JC,
Torres Silva MS,
Corral Herrera EA,
Crabtree-Ramirez B,
Blanco JL,
Girometti N,
Mazzotta V,
Hazra A,
Silva M,
Montenegro-Idrogo JJ,
Gebo K,
Ghosn J,
Peña Vázquez MF,
Matos Prado E,
Unigwe U,
Villar-García J,
Wald-Dickler N,
Zucker J,
Paredes R,
Calmy A,
Waters L,
Galvan-Casas C,
Walmsley S,
Orkin CM;
SHARE-NET writing group
Lancet
2023 Mar 18;401(10380):939-949.
Epub 2023 Feb 21
doi: 10.1016/S0140-6736(23)00273-8.
PMID: 36828001
Leiding JW,
Vogel TP,
Santarlas VGJ,
Mhaskar R,
Smith MR,
Carisey A,
Vargas-Hernández A,
Silva-Carmona M,
Heeg M,
Rensing-Ehl A,
Neven B,
Hadjadj J,
Hambleton S,
Ronan Leahy T,
Meesilpavikai K,
Cunningham-Rundles C,
Dutmer CM,
Sharapova SO,
Taskinen M,
Chua I,
Hague R,
Klemann C,
Kostyuchenko L,
Morio T,
Thatayatikom A,
Ozen A,
Scherbina A,
Bauer CS,
Flanagan SE,
Gambineri E,
Giovannini-Chami L,
Heimall J,
Sullivan KE,
Allenspach E,
Romberg N,
Deane SG,
Prince BT,
Rose MJ,
Bohnsack J,
Mousallem T,
Jesudas R,
Santos Vilela MMD,
O'Sullivan M,
Pachlopnik Schmid J,
Průhová Š,
Klocperk A,
Rees M,
Su H,
Bahna S,
Baris S,
Bartnikas LM,
Chang Berger A,
Briggs TA,
Brothers S,
Bundy V,
Chan AY,
Chandrakasan S,
Christiansen M,
Cole T,
Cook MC,
Desai MM,
Fischer U,
Fulcher DA,
Gallo S,
Gauthier A,
Gennery AR,
Gonçalo Marques J,
Gottrand F,
Grimbacher B,
Grunebaum E,
Haapaniemi E,
Hämäläinen S,
Heiskanen K,
Heiskanen-Kosma T,
Hoffman HM,
Gonzalez-Granado LI,
Guerrerio AL,
Kainulainen L,
Kumar A,
Lawrence MG,
Levin C,
Martelius T,
Neth O,
Olbrich P,
Palma A,
Patel NC,
Pozos T,
Preece K,
Lugo Reyes SO,
Russell MA,
Schejter Y,
Seroogy C,
Sinclair J,
Skevofilax E,
Suan D,
Suez D,
Szabolcs P,
Velasco H,
Warnatz K,
Walkovich K,
Worth A;
STAT3 GOF Working Group members,
Seppänen MRJ,
Torgerson TR,
Sogkas G,
Ehl S,
Tangye SG,
Cooper MA,
Milner JD,
Forbes Satter LR
J Allergy Clin Immunol
2023 Apr;151(4):1081-1095.
Epub 2022 Oct 11
doi: 10.1016/j.jaci.2022.09.002.
PMID: 36228738Free PMC Article
Bosticardo M,
Pala F,
Notarangelo LD
Eur J Immunol
2021 May;51(5):1028-1038.
Epub 2021 Mar 22
doi: 10.1002/eji.202048880.
PMID: 33682138Free PMC Article
Hurst JR,
Verma N,
Lowe D,
Baxendale HE,
Jolles S,
Kelleher P,
Longhurst HJ,
Patel SY,
Renzoni EA,
Sander CR,
Avery GR,
Babar JL,
Buckland MS,
Burns S,
Egner W,
Gompels MM,
Gordins P,
Haddock JA,
Hart SP,
Hayman GR,
Herriot R,
Hoyles RK,
Huissoon AP,
Jacob J,
Nicholson AG,
Rassl DM,
Sargur RB,
Savic S,
Seneviratne SL,
Sheaff M,
Vaitla PM,
Walters GI,
Whitehouse JL,
Wright PA,
Condliffe AM
J Allergy Clin Immunol Pract
2017 Jul-Aug;5(4):938-945.
Epub 2017 Mar 25
doi: 10.1016/j.jaip.2017.01.021.
PMID: 28351785
Roifman CM,
Somech R,
Kavadas F,
Pires L,
Nahum A,
Dalal I,
Grunebaum E
J Allergy Clin Immunol
2012 Jul;130(1):177-83.
Epub 2012 Jun 2
doi: 10.1016/j.jaci.2012.04.029.
PMID: 22664165
Therapy
Senefeld JW,
Klassen SA,
Ford SK,
Senese KA,
Wiggins CC,
Bostrom BC,
Thompson MA,
Baker SE,
Nicholson WT,
Johnson PW,
Carter RE,
Henderson JP,
Hartman WR,
Pirofski LA,
Wright RS,
Fairweather L,
Bruno KA,
Paneth NS,
Casadevall A,
Joyner MJ
Transfusion
2021 Aug;61(8):2503-2511.
Epub 2021 Jun 1
doi: 10.1111/trf.16525.
PMID: 34036587Free PMC Article
Jarrar D,
Song GY
Thorac Surg Clin
2018 Feb;28(1):105-108.
doi: 10.1016/j.thorsurg.2017.09.005.
PMID: 29150032
Stohl W,
Schwarting A,
Okada M,
Scheinberg M,
Doria A,
Hammer AE,
Kleoudis C,
Groark J,
Bass D,
Fox NL,
Roth D,
Gordon D
Arthritis Rheumatol
2017 May;69(5):1016-1027.
Epub 2017 Apr 7
doi: 10.1002/art.40049.
PMID: 28118533Free PMC Article
Mason-Jones AJ,
Sinclair D,
Mathews C,
Kagee A,
Hillman A,
Lombard C
Cochrane Database Syst Rev
2016 Nov 8;11(11):CD006417.
doi: 10.1002/14651858.CD006417.pub3.
PMID: 27824221Free PMC Article
Stephens HA
Infect Genet Evol
2012 Oct;12(7):1481-91.
Epub 2012 May 7
doi: 10.1016/j.meegid.2012.04.011.
PMID: 22575339
Prognosis
Du M,
Wang Y,
Qin C,
Mi D,
Liu M,
Liu J
AIDS
2023 Sep 1;37(11):1747-1756.
Epub 2023 Jun 21
doi: 10.1097/QAD.0000000000003632.
PMID: 37352496Free PMC Article
Zhang J,
Ma B,
Han X,
Ding S,
Li Y
Lancet Child Adolesc Health
2022 Nov;6(11):763-776.
Epub 2022 Sep 13
doi: 10.1016/S2352-4642(22)00219-X.
PMID: 36108664
Shi Y,
Wang C
Front Immunol
2021;12:679556.
Epub 2021 May 25
doi: 10.3389/fimmu.2021.679556.
PMID: 34113351Free PMC Article
Senefeld JW,
Klassen SA,
Ford SK,
Senese KA,
Wiggins CC,
Bostrom BC,
Thompson MA,
Baker SE,
Nicholson WT,
Johnson PW,
Carter RE,
Henderson JP,
Hartman WR,
Pirofski LA,
Wright RS,
Fairweather L,
Bruno KA,
Paneth NS,
Casadevall A,
Joyner MJ
Transfusion
2021 Aug;61(8):2503-2511.
Epub 2021 Jun 1
doi: 10.1111/trf.16525.
PMID: 34036587Free PMC Article
Guo H,
Liu J,
Pu L,
Hao J,
Yin N,
Liu Y,
Xiong H,
Li A
BMC Nephrol
2020 Mar 11;21(1):95.
doi: 10.1186/s12882-020-01754-4.
PMID: 32160882Free PMC Article
Clinical prediction guides
Leiding JW,
Vogel TP,
Santarlas VGJ,
Mhaskar R,
Smith MR,
Carisey A,
Vargas-Hernández A,
Silva-Carmona M,
Heeg M,
Rensing-Ehl A,
Neven B,
Hadjadj J,
Hambleton S,
Ronan Leahy T,
Meesilpavikai K,
Cunningham-Rundles C,
Dutmer CM,
Sharapova SO,
Taskinen M,
Chua I,
Hague R,
Klemann C,
Kostyuchenko L,
Morio T,
Thatayatikom A,
Ozen A,
Scherbina A,
Bauer CS,
Flanagan SE,
Gambineri E,
Giovannini-Chami L,
Heimall J,
Sullivan KE,
Allenspach E,
Romberg N,
Deane SG,
Prince BT,
Rose MJ,
Bohnsack J,
Mousallem T,
Jesudas R,
Santos Vilela MMD,
O'Sullivan M,
Pachlopnik Schmid J,
Průhová Š,
Klocperk A,
Rees M,
Su H,
Bahna S,
Baris S,
Bartnikas LM,
Chang Berger A,
Briggs TA,
Brothers S,
Bundy V,
Chan AY,
Chandrakasan S,
Christiansen M,
Cole T,
Cook MC,
Desai MM,
Fischer U,
Fulcher DA,
Gallo S,
Gauthier A,
Gennery AR,
Gonçalo Marques J,
Gottrand F,
Grimbacher B,
Grunebaum E,
Haapaniemi E,
Hämäläinen S,
Heiskanen K,
Heiskanen-Kosma T,
Hoffman HM,
Gonzalez-Granado LI,
Guerrerio AL,
Kainulainen L,
Kumar A,
Lawrence MG,
Levin C,
Martelius T,
Neth O,
Olbrich P,
Palma A,
Patel NC,
Pozos T,
Preece K,
Lugo Reyes SO,
Russell MA,
Schejter Y,
Seroogy C,
Sinclair J,
Skevofilax E,
Suan D,
Suez D,
Szabolcs P,
Velasco H,
Warnatz K,
Walkovich K,
Worth A;
STAT3 GOF Working Group members,
Seppänen MRJ,
Torgerson TR,
Sogkas G,
Ehl S,
Tangye SG,
Cooper MA,
Milner JD,
Forbes Satter LR
J Allergy Clin Immunol
2023 Apr;151(4):1081-1095.
Epub 2022 Oct 11
doi: 10.1016/j.jaci.2022.09.002.
PMID: 36228738Free PMC Article
Tomkinson AE,
Naila T,
Khattri Bhandari S
Mutagenesis
2020 Feb 13;35(1):51-60.
doi: 10.1093/mutage/gez026.
PMID: 31630206Free PMC Article
Hurst JR,
Verma N,
Lowe D,
Baxendale HE,
Jolles S,
Kelleher P,
Longhurst HJ,
Patel SY,
Renzoni EA,
Sander CR,
Avery GR,
Babar JL,
Buckland MS,
Burns S,
Egner W,
Gompels MM,
Gordins P,
Haddock JA,
Hart SP,
Hayman GR,
Herriot R,
Hoyles RK,
Huissoon AP,
Jacob J,
Nicholson AG,
Rassl DM,
Sargur RB,
Savic S,
Seneviratne SL,
Sheaff M,
Vaitla PM,
Walters GI,
Whitehouse JL,
Wright PA,
Condliffe AM
J Allergy Clin Immunol Pract
2017 Jul-Aug;5(4):938-945.
Epub 2017 Mar 25
doi: 10.1016/j.jaip.2017.01.021.
PMID: 28351785
Stohl W,
Schwarting A,
Okada M,
Scheinberg M,
Doria A,
Hammer AE,
Kleoudis C,
Groark J,
Bass D,
Fox NL,
Roth D,
Gordon D
Arthritis Rheumatol
2017 May;69(5):1016-1027.
Epub 2017 Apr 7
doi: 10.1002/art.40049.
PMID: 28118533Free PMC Article
Roifman CM,
Somech R,
Kavadas F,
Pires L,
Nahum A,
Dalal I,
Grunebaum E
J Allergy Clin Immunol
2012 Jul;130(1):177-83.
Epub 2012 Jun 2
doi: 10.1016/j.jaci.2012.04.029.
PMID: 22664165