Etiology
Atschekzei F,
Traidl S,
Carlens J,
Schütz K,
von Hardenberg S,
Elsayed A,
Ernst D,
Risser L,
Thiele T,
Graalmann T,
Raab J,
Baumann U,
Witte T,
Sogkas G
Front Immunol
2024;15:1400348.
Epub 2024 Aug 23
doi: 10.3389/fimmu.2024.1400348.
PMID: 39247195Free PMC Article
Maccari ME,
Wolkewitz M,
Schwab C,
Lorenzini T,
Leiding JW,
Aladjdi N,
Abolhassani H,
Abou-Chahla W,
Aiuti A,
Azarnoush S,
Baris S,
Barlogis V,
Barzaghi F,
Baumann U,
Bloomfield M,
Bohynikova N,
Bodet D,
Boutboul D,
Bucciol G,
Buckland MS,
Burns SO,
Cancrini C,
Cathébras P,
Cavazzana M,
Cheminant M,
Chinello M,
Ciznar P,
Coulter TI,
D'Aveni M,
Ekwall O,
Eric Z,
Eren E,
Fasth A,
Frange P,
Fournier B,
Garcia-Prat M,
Gardembas M,
Geier C,
Ghosh S,
Goda V,
Hammarström L,
Hauck F,
Heeg M,
Heropolitanska-Pliszka E,
Hilfanova A,
Jolles S,
Karakoc-Aydiner E,
Kindle GR,
Kiykim A,
Klemann C,
Koletsi P,
Koltan S,
Kondratenko I,
Körholz J,
Krüger R,
Jeziorski E,
Levy R,
Le Guenno G,
Lefevre G,
Lougaris V,
Marzollo A,
Mahlaoui N,
Malphettes M,
Meinhardt A,
Merlin E,
Meyts I,
Milota T,
Moreira F,
Moshous D,
Mukhina A,
Neth O,
Neubert J,
Neven B,
Nieters A,
Nove-Josserand R,
Oksenhendler E,
Ozen A,
Olbrich P,
Perlat A,
Pac M,
Schmid JP,
Pacillo L,
Parra-Martinez A,
Paschenko O,
Pellier I,
Sefer AP,
Plebani A,
Plantaz D,
Prader S,
Raffray L,
Ritterbusch H,
Riviere JG,
Rivalta B,
Rusch S,
Sakovich I,
Savic S,
Scheible R,
Schleinitz N,
Schuetz C,
Schulz A,
Sediva A,
Semeraro M,
Sharapova SO,
Shcherbina A,
Slatter MA,
Sogkas G,
Soler-Palacin P,
Speckmann C,
Stephan JL,
Suarez F,
Tommasini A,
Trück J,
Uhlmann A,
van Aerde KJ,
van Montfrans J,
von Bernuth H,
Warnatz K,
Williams T,
Worth AJJ,
Ip W,
Picard C,
Catherinot E,
Nademi Z,
Grimbacher B,
Forbes Satter LR,
Kracker S,
Chandra A,
Condliffe AM,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2023 Oct;152(4):984-996.e10.
Epub 2023 Jun 28
doi: 10.1016/j.jaci.2023.06.015.
PMID: 37390899
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
López AL,
Niemela J,
Stoddard J,
Paolini MV,
Rosenzweig S,
Fernández Romero DS
Medicina (B Aires)
2021;81(6):1065-1068.
PMID: 34875609
Ogishi M,
Yang R,
Aytekin C,
Langlais D,
Bourgey M,
Khan T,
Ali FA,
Rahman M,
Delmonte OM,
Chrabieh M,
Zhang P,
Gruber C,
Pelham SJ,
Spaan AN,
Rosain J,
Lei WT,
Drutman S,
Hellmann MD,
Callahan MK,
Adamow M,
Wong P,
Wolchok JD,
Rao G,
Ma CS,
Nakajima Y,
Yaguchi T,
Chamoto K,
Williams SC,
Emile JF,
Rozenberg F,
Glickman MS,
Rapaport F,
Kerner G,
Allington G,
Tezcan I,
Cagdas D,
Hosnut FO,
Dogu F,
Ikinciogullari A,
Rao VK,
Kainulainen L,
Béziat V,
Bustamante J,
Vilarinho S,
Lifton RP,
Boisson B,
Abel L,
Bogunovic D,
Marr N,
Notarangelo LD,
Tangye SG,
Honjo T,
Gros P,
Boisson-Dupuis S,
Casanova JL
Nat Med
2021 Sep;27(9):1646-1654.
Epub 2021 Jun 28
doi: 10.1038/s41591-021-01388-5.
PMID: 34183838Free PMC Article
Diagnosis
Atschekzei F,
Traidl S,
Carlens J,
Schütz K,
von Hardenberg S,
Elsayed A,
Ernst D,
Risser L,
Thiele T,
Graalmann T,
Raab J,
Baumann U,
Witte T,
Sogkas G
Front Immunol
2024;15:1400348.
Epub 2024 Aug 23
doi: 10.3389/fimmu.2024.1400348.
PMID: 39247195Free PMC Article
Song Z,
Wu W,
Wei W,
Xiao W,
Lei M,
Cai KQ,
Huang DW,
Jeong S,
Zhang JP,
Wang H,
Kadin ME,
Waldmann TA,
Staudt LM,
Nakagawa M,
Yang Y
Blood
2023 Oct 12;142(15):1297-1311.
doi: 10.1182/blood.2022019166.
PMID: 37339580Free PMC Article
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
López AL,
Niemela J,
Stoddard J,
Paolini MV,
Rosenzweig S,
Fernández Romero DS
Medicina (B Aires)
2021;81(6):1065-1068.
PMID: 34875609
Faletti L,
Ehl S,
Heeg M
Biomed J
2021 Aug;44(4):412-421.
Epub 2021 Mar 20
doi: 10.1016/j.bj.2021.03.003.
PMID: 34366294Free PMC Article
Therapy
Atschekzei F,
Traidl S,
Carlens J,
Schütz K,
von Hardenberg S,
Elsayed A,
Ernst D,
Risser L,
Thiele T,
Graalmann T,
Raab J,
Baumann U,
Witte T,
Sogkas G
Front Immunol
2024;15:1400348.
Epub 2024 Aug 23
doi: 10.3389/fimmu.2024.1400348.
PMID: 39247195Free PMC Article
Lan C,
Fang G,
Qiu C,
Li X,
Yang F,
Yang Y
Clin Exp Hypertens
2024 Dec 31;46(1):2297642.
Epub 2023 Dec 26
doi: 10.1080/10641963.2023.2297642.
PMID: 38147409
Hadjadj J,
Frémond ML,
Neven B
Front Immunol
2021;12:717388.
Epub 2021 Sep 17
doi: 10.3389/fimmu.2021.717388.
PMID: 34603291Free PMC Article
Ogishi M,
Yang R,
Aytekin C,
Langlais D,
Bourgey M,
Khan T,
Ali FA,
Rahman M,
Delmonte OM,
Chrabieh M,
Zhang P,
Gruber C,
Pelham SJ,
Spaan AN,
Rosain J,
Lei WT,
Drutman S,
Hellmann MD,
Callahan MK,
Adamow M,
Wong P,
Wolchok JD,
Rao G,
Ma CS,
Nakajima Y,
Yaguchi T,
Chamoto K,
Williams SC,
Emile JF,
Rozenberg F,
Glickman MS,
Rapaport F,
Kerner G,
Allington G,
Tezcan I,
Cagdas D,
Hosnut FO,
Dogu F,
Ikinciogullari A,
Rao VK,
Kainulainen L,
Béziat V,
Bustamante J,
Vilarinho S,
Lifton RP,
Boisson B,
Abel L,
Bogunovic D,
Marr N,
Notarangelo LD,
Tangye SG,
Honjo T,
Gros P,
Boisson-Dupuis S,
Casanova JL
Nat Med
2021 Sep;27(9):1646-1654.
Epub 2021 Jun 28
doi: 10.1038/s41591-021-01388-5.
PMID: 34183838Free PMC Article
Turner SD,
Inghirami G,
Miranda RN,
Kadin ME
Am J Pathol
2020 Jan;190(1):2-10.
Epub 2019 Oct 11
doi: 10.1016/j.ajpath.2019.09.005.
PMID: 31610171Free PMC Article
Prognosis
Marchand T,
Lamy T,
Loughran TP Jr
Blood
2024 Oct 31;144(18):1910-1923.
doi: 10.1182/blood.2023021790.
PMID: 38848524
Maccari ME,
Wolkewitz M,
Schwab C,
Lorenzini T,
Leiding JW,
Aladjdi N,
Abolhassani H,
Abou-Chahla W,
Aiuti A,
Azarnoush S,
Baris S,
Barlogis V,
Barzaghi F,
Baumann U,
Bloomfield M,
Bohynikova N,
Bodet D,
Boutboul D,
Bucciol G,
Buckland MS,
Burns SO,
Cancrini C,
Cathébras P,
Cavazzana M,
Cheminant M,
Chinello M,
Ciznar P,
Coulter TI,
D'Aveni M,
Ekwall O,
Eric Z,
Eren E,
Fasth A,
Frange P,
Fournier B,
Garcia-Prat M,
Gardembas M,
Geier C,
Ghosh S,
Goda V,
Hammarström L,
Hauck F,
Heeg M,
Heropolitanska-Pliszka E,
Hilfanova A,
Jolles S,
Karakoc-Aydiner E,
Kindle GR,
Kiykim A,
Klemann C,
Koletsi P,
Koltan S,
Kondratenko I,
Körholz J,
Krüger R,
Jeziorski E,
Levy R,
Le Guenno G,
Lefevre G,
Lougaris V,
Marzollo A,
Mahlaoui N,
Malphettes M,
Meinhardt A,
Merlin E,
Meyts I,
Milota T,
Moreira F,
Moshous D,
Mukhina A,
Neth O,
Neubert J,
Neven B,
Nieters A,
Nove-Josserand R,
Oksenhendler E,
Ozen A,
Olbrich P,
Perlat A,
Pac M,
Schmid JP,
Pacillo L,
Parra-Martinez A,
Paschenko O,
Pellier I,
Sefer AP,
Plebani A,
Plantaz D,
Prader S,
Raffray L,
Ritterbusch H,
Riviere JG,
Rivalta B,
Rusch S,
Sakovich I,
Savic S,
Scheible R,
Schleinitz N,
Schuetz C,
Schulz A,
Sediva A,
Semeraro M,
Sharapova SO,
Shcherbina A,
Slatter MA,
Sogkas G,
Soler-Palacin P,
Speckmann C,
Stephan JL,
Suarez F,
Tommasini A,
Trück J,
Uhlmann A,
van Aerde KJ,
van Montfrans J,
von Bernuth H,
Warnatz K,
Williams T,
Worth AJJ,
Ip W,
Picard C,
Catherinot E,
Nademi Z,
Grimbacher B,
Forbes Satter LR,
Kracker S,
Chandra A,
Condliffe AM,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2023 Oct;152(4):984-996.e10.
Epub 2023 Jun 28
doi: 10.1016/j.jaci.2023.06.015.
PMID: 37390899
Song Z,
Wu W,
Wei W,
Xiao W,
Lei M,
Cai KQ,
Huang DW,
Jeong S,
Zhang JP,
Wang H,
Kadin ME,
Waldmann TA,
Staudt LM,
Nakagawa M,
Yang Y
Blood
2023 Oct 12;142(15):1297-1311.
doi: 10.1182/blood.2022019166.
PMID: 37339580Free PMC Article
Turner SD,
Inghirami G,
Miranda RN,
Kadin ME
Am J Pathol
2020 Jan;190(1):2-10.
Epub 2019 Oct 11
doi: 10.1016/j.ajpath.2019.09.005.
PMID: 31610171Free PMC Article
Suh YW,
Horton JC
Ophthalmic Genet
2019 Apr;40(2):165-169.
Epub 2019 Apr 3
doi: 10.1080/13816810.2019.1592202.
PMID: 30942636Free PMC Article
Clinical prediction guides
Toth KA,
Schmitt EG,
Kolicheski A,
Greenberg ZJ,
Levendosky E,
Saucier N,
Trammel K,
Oikonomou V,
Lionakis MS,
Klechevsky E,
Kim BS,
Schuettpelz LG,
Saligrama N,
Cooper MA
J Exp Med
2024 Aug 5;221(8)
Epub 2024 Jun 11
doi: 10.1084/jem.20232091.
PMID: 38861030Free PMC Article
Marchand T,
Lamy T,
Loughran TP Jr
Blood
2024 Oct 31;144(18):1910-1923.
doi: 10.1182/blood.2023021790.
PMID: 38848524
Maccari ME,
Wolkewitz M,
Schwab C,
Lorenzini T,
Leiding JW,
Aladjdi N,
Abolhassani H,
Abou-Chahla W,
Aiuti A,
Azarnoush S,
Baris S,
Barlogis V,
Barzaghi F,
Baumann U,
Bloomfield M,
Bohynikova N,
Bodet D,
Boutboul D,
Bucciol G,
Buckland MS,
Burns SO,
Cancrini C,
Cathébras P,
Cavazzana M,
Cheminant M,
Chinello M,
Ciznar P,
Coulter TI,
D'Aveni M,
Ekwall O,
Eric Z,
Eren E,
Fasth A,
Frange P,
Fournier B,
Garcia-Prat M,
Gardembas M,
Geier C,
Ghosh S,
Goda V,
Hammarström L,
Hauck F,
Heeg M,
Heropolitanska-Pliszka E,
Hilfanova A,
Jolles S,
Karakoc-Aydiner E,
Kindle GR,
Kiykim A,
Klemann C,
Koletsi P,
Koltan S,
Kondratenko I,
Körholz J,
Krüger R,
Jeziorski E,
Levy R,
Le Guenno G,
Lefevre G,
Lougaris V,
Marzollo A,
Mahlaoui N,
Malphettes M,
Meinhardt A,
Merlin E,
Meyts I,
Milota T,
Moreira F,
Moshous D,
Mukhina A,
Neth O,
Neubert J,
Neven B,
Nieters A,
Nove-Josserand R,
Oksenhendler E,
Ozen A,
Olbrich P,
Perlat A,
Pac M,
Schmid JP,
Pacillo L,
Parra-Martinez A,
Paschenko O,
Pellier I,
Sefer AP,
Plebani A,
Plantaz D,
Prader S,
Raffray L,
Ritterbusch H,
Riviere JG,
Rivalta B,
Rusch S,
Sakovich I,
Savic S,
Scheible R,
Schleinitz N,
Schuetz C,
Schulz A,
Sediva A,
Semeraro M,
Sharapova SO,
Shcherbina A,
Slatter MA,
Sogkas G,
Soler-Palacin P,
Speckmann C,
Stephan JL,
Suarez F,
Tommasini A,
Trück J,
Uhlmann A,
van Aerde KJ,
van Montfrans J,
von Bernuth H,
Warnatz K,
Williams T,
Worth AJJ,
Ip W,
Picard C,
Catherinot E,
Nademi Z,
Grimbacher B,
Forbes Satter LR,
Kracker S,
Chandra A,
Condliffe AM,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2023 Oct;152(4):984-996.e10.
Epub 2023 Jun 28
doi: 10.1016/j.jaci.2023.06.015.
PMID: 37390899
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
Lodi L,
Faletti LE,
Maccari ME,
Consonni F,
Groß M,
Pagnini I,
Ricci S,
Heeg M,
Simonini G,
Azzari C,
Ehl S
J Allergy Clin Immunol
2022 Nov;150(5):1237-1241.e3.
Epub 2022 Jun 21
doi: 10.1016/j.jaci.2022.06.007.
PMID: 35750105