Etiology
STAT6 Gain-of-Function International Consortium. Electronic address: [email protected];
STAT6 Gain-of-Function International Consortium
Trends Immunol
2024 Feb;45(2):138-153.
Epub 2024 Jan 17
doi: 10.1016/j.it.2023.12.003.
PMID: 38238227
Fischer M,
Olbrich P,
Hadjadj J,
Aumann V,
Bakhtiar S,
Barlogis V,
von Bismarck P,
Bloomfield M,
Booth C,
Buddingh EP,
Cagdas D,
Castelle M,
Chan AY,
Chandrakasan S,
Chetty K,
Cougoul P,
Crickx E,
Dara J,
Deyà-Martínez A,
Farmand S,
Formankova R,
Gennery AR,
Gonzalez-Granado LI,
Hagin D,
Hanitsch LG,
Hanzlikovà J,
Hauck F,
Ivorra-Cortés J,
Kisand K,
Kiykim A,
Körholz J,
Leahy TR,
van Montfrans J,
Nademi Z,
Nelken B,
Parikh S,
Plado S,
Ramakers J,
Redlich A,
Rieux-Laucat F,
Rivière JG,
Rodina Y,
Júnior PR,
Salou S,
Schuetz C,
Shcherbina A,
Slatter MA,
Touzot F,
Unal E,
Lankester AC,
Burns S,
Seppänen MRJ,
Neth O,
Albert MH,
Ehl S,
Neven B,
Speckmann C
J Allergy Clin Immunol
2024 Jan;153(1):275-286.e18.
Epub 2023 Nov 5
doi: 10.1016/j.jaci.2023.10.018.
PMID: 37935260
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
Rao VK,
Webster S,
Šedivá A,
Plebani A,
Schuetz C,
Shcherbina A,
Conlon N,
Coulter T,
Dalm VA,
Trizzino A,
Zharankova Y,
Kulm E,
Körholz J,
Lougaris V,
Rodina Y,
Radford K,
Bradt J,
Kucher K,
Relan A,
Holland SM,
Lenardo MJ,
Uzel G
Blood
2023 Mar 2;141(9):971-983.
doi: 10.1182/blood.2022018546.
PMID: 36399712Free PMC Article
Thalhammer J,
Kindle G,
Nieters A,
Rusch S,
Seppänen MRJ,
Fischer A,
Grimbacher B,
Edgar D,
Buckland M,
Mahlaoui N,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2021 Nov;148(5):1332-1341.e5.
Epub 2021 Apr 23
doi: 10.1016/j.jaci.2021.04.015.
PMID: 33895260
Diagnosis
Magerus A,
Rensing-Ehl A,
Rao VK,
Teachey DT,
Rieux-Laucat F,
Ehl S
J Allergy Clin Immunol
2024 Jan;153(1):67-76.
Epub 2023 Nov 17
doi: 10.1016/j.jaci.2023.11.004.
PMID: 37977527Free PMC Article
Simchoni N,
Vogel TP,
Shum AK
Rheum Dis Clin North Am
2023 Nov;49(4):789-804.
Epub 2023 Jul 21
doi: 10.1016/j.rdc.2023.06.005.
PMID: 37821196Free PMC Article
Biggs SE,
Gilchrist B,
May KR
Curr Allergy Asthma Rep
2023 Apr;23(4):213-222.
Epub 2023 Mar 10
doi: 10.1007/s11882-023-01071-4.
PMID: 36897497Free PMC Article
Thalhammer J,
Kindle G,
Nieters A,
Rusch S,
Seppänen MRJ,
Fischer A,
Grimbacher B,
Edgar D,
Buckland M,
Mahlaoui N,
Ehl S;
European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol
2021 Nov;148(5):1332-1341.e5.
Epub 2021 Apr 23
doi: 10.1016/j.jaci.2021.04.015.
PMID: 33895260
Leite LFB,
Máximo TA,
Mosca T,
Forte WCN
Allergol Immunopathol (Madr)
2020 Jul-Aug;48(4):409-413.
Epub 2019 Dec 9
doi: 10.1016/j.aller.2019.08.005.
PMID: 31831191
Therapy
Fischer M,
Olbrich P,
Hadjadj J,
Aumann V,
Bakhtiar S,
Barlogis V,
von Bismarck P,
Bloomfield M,
Booth C,
Buddingh EP,
Cagdas D,
Castelle M,
Chan AY,
Chandrakasan S,
Chetty K,
Cougoul P,
Crickx E,
Dara J,
Deyà-Martínez A,
Farmand S,
Formankova R,
Gennery AR,
Gonzalez-Granado LI,
Hagin D,
Hanitsch LG,
Hanzlikovà J,
Hauck F,
Ivorra-Cortés J,
Kisand K,
Kiykim A,
Körholz J,
Leahy TR,
van Montfrans J,
Nademi Z,
Nelken B,
Parikh S,
Plado S,
Ramakers J,
Redlich A,
Rieux-Laucat F,
Rivière JG,
Rodina Y,
Júnior PR,
Salou S,
Schuetz C,
Shcherbina A,
Slatter MA,
Touzot F,
Unal E,
Lankester AC,
Burns S,
Seppänen MRJ,
Neth O,
Albert MH,
Ehl S,
Neven B,
Speckmann C
J Allergy Clin Immunol
2024 Jan;153(1):275-286.e18.
Epub 2023 Nov 5
doi: 10.1016/j.jaci.2023.10.018.
PMID: 37935260
Rao VK,
Kulm E,
Šedivá A,
Plebani A,
Schuetz C,
Shcherbina A,
Dalm VA,
Trizzino A,
Zharankova Y,
Webster S,
Orpia A,
Körholz J,
Lougaris V,
Rodina Y,
Radford K,
Bradt J,
Relan A,
Holland SM,
Lenardo MJ,
Uzel G
J Allergy Clin Immunol
2024 Jan;153(1):265-274.e9.
Epub 2023 Oct 4
doi: 10.1016/j.jaci.2023.09.032.
PMID: 37797893Free PMC Article
Berglund LJ
J Clin Immunol
2023 Dec 27;44(1):34.
doi: 10.1007/s10875-023-01626-0.
PMID: 38148368Free PMC Article
Yang AH,
Sullivan B,
Zerbe CS,
De Ravin SS,
Blakely AM,
Quezado MM,
Marciano BE,
Marko J,
Ling A,
Kleiner DE,
Gallin JI,
Malech HL,
Holland SM,
Heller T
J Allergy Clin Immunol Pract
2023 May;11(5):1401-1416.
Epub 2023 Jan 13
doi: 10.1016/j.jaip.2022.12.039.
PMID: 36646382
Rao VK,
Webster S,
Šedivá A,
Plebani A,
Schuetz C,
Shcherbina A,
Conlon N,
Coulter T,
Dalm VA,
Trizzino A,
Zharankova Y,
Kulm E,
Körholz J,
Lougaris V,
Rodina Y,
Radford K,
Bradt J,
Kucher K,
Relan A,
Holland SM,
Lenardo MJ,
Uzel G
Blood
2023 Mar 2;141(9):971-983.
doi: 10.1182/blood.2022018546.
PMID: 36399712Free PMC Article
Prognosis
Phuong LK,
Cheung A,
Agrawal R,
Butters C,
Buttery J,
Clark J,
Connell T,
Curtis N,
Daley AJ,
Dobinson HC,
Frith C,
Hameed NS,
Hernstadt H,
Krieser DM,
Loke P,
Ojaimi S,
McMullan B,
Pinzon-Charry A,
Sharp EG,
Sinnappurajar P,
Templeton T,
Wen S,
Cole T,
Gwee A
Pediatr Infect Dis J
2023 Oct 1;42(10):908-913.
Epub 2023 Jul 7
doi: 10.1097/INF.0000000000004004.
PMID: 37463351
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
Cortesi M,
Soresina A,
Dotta L,
Gorio C,
Cattalini M,
Lougaris V,
Porta F,
Badolato R
Front Immunol
2022;13:846660.
Epub 2022 Apr 6
doi: 10.3389/fimmu.2022.846660.
PMID: 35464467Free PMC Article
Stadler PC,
Renner ED,
Milner J,
Wollenberg A
J Allergy Clin Immunol Pract
2021 Apr;9(4):1501-1507.
Epub 2021 Feb 3
doi: 10.1016/j.jaip.2021.01.037.
PMID: 33548520
Lorenzini T,
Fliegauf M,
Klammer N,
Frede N,
Proietti M,
Bulashevska A,
Camacho-Ordonez N,
Varjosalo M,
Kinnunen M,
de Vries E,
van der Meer JWM,
Ameratunga R,
Roifman CM,
Schejter YD,
Kobbe R,
Hautala T,
Atschekzei F,
Schmidt RE,
Schröder C,
Stepensky P,
Shadur B,
Pedroza LA,
van der Flier M,
Martínez-Gallo M,
Gonzalez-Granado LI,
Allende LM,
Shcherbina A,
Kuzmenko N,
Zakharova V,
Neves JF,
Svec P,
Fischer U,
Ip W,
Bartsch O,
Barış S,
Klein C,
Geha R,
Chou J,
Alosaimi M,
Weintraub L,
Boztug K,
Hirschmugl T,
Dos Santos Vilela MM,
Holzinger D,
Seidl M,
Lougaris V,
Plebani A,
Alsina L,
Piquer-Gibert M,
Deyà-Martínez A,
Slade CA,
Aghamohammadi A,
Abolhassani H,
Hammarström L,
Kuismin O,
Helminen M,
Allen HL,
Thaventhiran JE,
Freeman AF,
Cook M,
Bakhtiar S,
Christiansen M,
Cunningham-Rundles C,
Patel NC,
Rae W,
Niehues T,
Brauer N,
Syrjänen J,
Seppänen MRJ,
Burns SO,
Tuijnenburg P,
Kuijpers TW;
NIHR BioResource,
Warnatz K,
Grimbacher B;
NIHR BioResource
J Allergy Clin Immunol
2020 Oct;146(4):901-911.
Epub 2020 Apr 9
doi: 10.1016/j.jaci.2019.11.051.
PMID: 32278790Free PMC Article
Clinical prediction guides
Rao VK,
Kulm E,
Šedivá A,
Plebani A,
Schuetz C,
Shcherbina A,
Dalm VA,
Trizzino A,
Zharankova Y,
Webster S,
Orpia A,
Körholz J,
Lougaris V,
Rodina Y,
Radford K,
Bradt J,
Relan A,
Holland SM,
Lenardo MJ,
Uzel G
J Allergy Clin Immunol
2024 Jan;153(1):265-274.e9.
Epub 2023 Oct 4
doi: 10.1016/j.jaci.2023.09.032.
PMID: 37797893Free PMC Article
Vanselow S,
Wahn V,
Schuetz C
Front Immunol
2023;14:1208567.
Epub 2023 Jul 20
doi: 10.3389/fimmu.2023.1208567.
PMID: 37600808Free 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
Kostel Bal S,
Giuliani S,
Block J,
Repiscak P,
Hafemeister C,
Shahin T,
Kasap N,
Ransmayr B,
Miao Y,
van de Wetering C,
Frohne A,
Jimenez Heredia R,
Schuster M,
Zoghi S,
Hertlein V,
Thian M,
Bykov A,
Babayeva R,
Bilgic Eltan S,
Karakoc-Aydiner E,
Shaw LE,
Chowdhury I,
Varjosalo M,
Argüello RJ,
Farlik M,
Ozen A,
Serfling E,
Dupré L,
Bock C,
Halbritter F,
Hannich JT,
Castanon I,
Kraakman MJ,
Baris S,
Boztug K
Blood
2023 Aug 31;142(9):827-845.
doi: 10.1182/blood.2022018303.
PMID: 37249233
Lorenzini T,
Fliegauf M,
Klammer N,
Frede N,
Proietti M,
Bulashevska A,
Camacho-Ordonez N,
Varjosalo M,
Kinnunen M,
de Vries E,
van der Meer JWM,
Ameratunga R,
Roifman CM,
Schejter YD,
Kobbe R,
Hautala T,
Atschekzei F,
Schmidt RE,
Schröder C,
Stepensky P,
Shadur B,
Pedroza LA,
van der Flier M,
Martínez-Gallo M,
Gonzalez-Granado LI,
Allende LM,
Shcherbina A,
Kuzmenko N,
Zakharova V,
Neves JF,
Svec P,
Fischer U,
Ip W,
Bartsch O,
Barış S,
Klein C,
Geha R,
Chou J,
Alosaimi M,
Weintraub L,
Boztug K,
Hirschmugl T,
Dos Santos Vilela MM,
Holzinger D,
Seidl M,
Lougaris V,
Plebani A,
Alsina L,
Piquer-Gibert M,
Deyà-Martínez A,
Slade CA,
Aghamohammadi A,
Abolhassani H,
Hammarström L,
Kuismin O,
Helminen M,
Allen HL,
Thaventhiran JE,
Freeman AF,
Cook M,
Bakhtiar S,
Christiansen M,
Cunningham-Rundles C,
Patel NC,
Rae W,
Niehues T,
Brauer N,
Syrjänen J,
Seppänen MRJ,
Burns SO,
Tuijnenburg P,
Kuijpers TW;
NIHR BioResource,
Warnatz K,
Grimbacher B;
NIHR BioResource
J Allergy Clin Immunol
2020 Oct;146(4):901-911.
Epub 2020 Apr 9
doi: 10.1016/j.jaci.2019.11.051.
PMID: 32278790Free PMC Article