Etiology
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
Fernández Miró M,
Colom Comí C,
Godoy Lorenzo R
Med Clin (Barc)
2021 Sep 10;157(5):241-246.
Epub 2021 May 3
doi: 10.1016/j.medcli.2021.02.004.
PMID: 33958142
Winthrop KL,
Mariette X,
Silva JT,
Benamu E,
Calabrese LH,
Dumusc A,
Smolen JS,
Aguado JM,
Fernández-Ruiz M
Clin Microbiol Infect
2018 Jun;24 Suppl 2:S21-S40.
Epub 2018 Feb 12
doi: 10.1016/j.cmi.2018.02.002.
PMID: 29447987
Toubiana J,
Okada S,
Hiller J,
Oleastro M,
Lagos Gomez M,
Aldave Becerra JC,
Ouachée-Chardin M,
Fouyssac F,
Girisha KM,
Etzioni A,
Van Montfrans J,
Camcioglu Y,
Kerns LA,
Belohradsky B,
Blanche S,
Bousfiha A,
Rodriguez-Gallego C,
Meyts I,
Kisand K,
Reichenbach J,
Renner ED,
Rosenzweig S,
Grimbacher B,
van de Veerdonk FL,
Traidl-Hoffmann C,
Picard C,
Marodi L,
Morio T,
Kobayashi M,
Lilic D,
Milner JD,
Holland S,
Casanova JL,
Puel A;
International STAT1 Gain-of-Function Study Group
Blood
2016 Jun 23;127(25):3154-64.
Epub 2016 Apr 25
doi: 10.1182/blood-2015-11-679902.
PMID: 27114460Free PMC Article
Obermayer-Straub P,
Strassburg CP,
Manns MP
J Hepatol
2000;32(1 Suppl):181-97.
doi: 10.1016/s0168-8278(00)80425-0.
PMID: 10728804
Diagnosis
Fernández Miró M,
Colom Comí C,
Godoy Lorenzo R
Med Clin (Barc)
2021 Sep 10;157(5):241-246.
Epub 2021 May 3
doi: 10.1016/j.medcli.2021.02.004.
PMID: 33958142
Okada S,
Asano T,
Moriya K,
Boisson-Dupuis S,
Kobayashi M,
Casanova JL,
Puel A
J Clin Immunol
2020 Nov;40(8):1065-1081.
Epub 2020 Aug 27
doi: 10.1007/s10875-020-00847-x.
PMID: 32852681Free PMC Article
Millsop JW,
Fazel N
Clin Dermatol
2016 Jul-Aug;34(4):487-94.
Epub 2016 Mar 2
doi: 10.1016/j.clindermatol.2016.02.022.
PMID: 27343964
Mogensen TH
Int Rev Immunol
2016;35(1):39-56.
Epub 2015 May 13
doi: 10.3109/08830185.2015.1027820.
PMID: 25970001
Browne SK
Annu Rev Immunol
2014;32:635-57.
Epub 2014 Feb 5
doi: 10.1146/annurev-immunol-032713-120222.
PMID: 24499273
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
Winthrop KL,
Mariette X,
Silva JT,
Benamu E,
Calabrese LH,
Dumusc A,
Smolen JS,
Aguado JM,
Fernández-Ruiz M
Clin Microbiol Infect
2018 Jun;24 Suppl 2:S21-S40.
Epub 2018 Feb 12
doi: 10.1016/j.cmi.2018.02.002.
PMID: 29447987
Millsop JW,
Fazel N
Clin Dermatol
2016 Jul-Aug;34(4):487-94.
Epub 2016 Mar 2
doi: 10.1016/j.clindermatol.2016.02.022.
PMID: 27343964
Mogensen TH
Int Rev Immunol
2016;35(1):39-56.
Epub 2015 May 13
doi: 10.3109/08830185.2015.1027820.
PMID: 25970001
Hay RJ
J Infect
1990 Jul;21(1):1-6.
doi: 10.1016/0163-4453(90)90508-6.
PMID: 2384673
Prognosis
Fernández Miró M,
Colom Comí C,
Godoy Lorenzo R
Med Clin (Barc)
2021 Sep 10;157(5):241-246.
Epub 2021 May 3
doi: 10.1016/j.medcli.2021.02.004.
PMID: 33958142
Okada S,
Asano T,
Moriya K,
Boisson-Dupuis S,
Kobayashi M,
Casanova JL,
Puel A
J Clin Immunol
2020 Nov;40(8):1065-1081.
Epub 2020 Aug 27
doi: 10.1007/s10875-020-00847-x.
PMID: 32852681Free PMC Article
Olbrich P,
Freeman AF
Expert Rev Clin Immunol
2018 Dec;14(12):1029-1041.
Epub 2018 Oct 25
doi: 10.1080/1744666X.2018.1531704.
PMID: 30280610
Toubiana J,
Okada S,
Hiller J,
Oleastro M,
Lagos Gomez M,
Aldave Becerra JC,
Ouachée-Chardin M,
Fouyssac F,
Girisha KM,
Etzioni A,
Van Montfrans J,
Camcioglu Y,
Kerns LA,
Belohradsky B,
Blanche S,
Bousfiha A,
Rodriguez-Gallego C,
Meyts I,
Kisand K,
Reichenbach J,
Renner ED,
Rosenzweig S,
Grimbacher B,
van de Veerdonk FL,
Traidl-Hoffmann C,
Picard C,
Marodi L,
Morio T,
Kobayashi M,
Lilic D,
Milner JD,
Holland S,
Casanova JL,
Puel A;
International STAT1 Gain-of-Function Study Group
Blood
2016 Jun 23;127(25):3154-64.
Epub 2016 Apr 25
doi: 10.1182/blood-2015-11-679902.
PMID: 27114460Free PMC Article
Obermayer-Straub P,
Strassburg CP,
Manns MP
J Hepatol
2000;32(1 Suppl):181-97.
doi: 10.1016/s0168-8278(00)80425-0.
PMID: 10728804
Clinical prediction guides
Kasap N,
Kara A,
Celik V,
Bilgic Eltan S,
Akay Haci I,
Kose H,
Aygun A,
Akkelle E,
Yakici N,
Guner SN,
Reisli I,
Keles S,
Cekic S,
Kilic SS,
Karaca NE,
Gulez N,
Genel F,
Ozen A,
Yucelten AD,
Karakoc-Aydiner E,
Schmitz-Abe K,
Baris S
J Clin Immunol
2023 Nov;43(8):1882-1890.
Epub 2023 Jul 29
doi: 10.1007/s10875-023-01554-z.
PMID: 37507632
Puel A,
Bastard P,
Bustamante J,
Casanova JL
J Exp Med
2022 Apr 4;219(4)
Epub 2022 Mar 23
doi: 10.1084/jem.20211387.
PMID: 35319722Free PMC Article
Fernández Miró M,
Colom Comí C,
Godoy Lorenzo R
Med Clin (Barc)
2021 Sep 10;157(5):241-246.
Epub 2021 May 3
doi: 10.1016/j.medcli.2021.02.004.
PMID: 33958142
Winthrop KL,
Mariette X,
Silva JT,
Benamu E,
Calabrese LH,
Dumusc A,
Smolen JS,
Aguado JM,
Fernández-Ruiz M
Clin Microbiol Infect
2018 Jun;24 Suppl 2:S21-S40.
Epub 2018 Feb 12
doi: 10.1016/j.cmi.2018.02.002.
PMID: 29447987
Toubiana J,
Okada S,
Hiller J,
Oleastro M,
Lagos Gomez M,
Aldave Becerra JC,
Ouachée-Chardin M,
Fouyssac F,
Girisha KM,
Etzioni A,
Van Montfrans J,
Camcioglu Y,
Kerns LA,
Belohradsky B,
Blanche S,
Bousfiha A,
Rodriguez-Gallego C,
Meyts I,
Kisand K,
Reichenbach J,
Renner ED,
Rosenzweig S,
Grimbacher B,
van de Veerdonk FL,
Traidl-Hoffmann C,
Picard C,
Marodi L,
Morio T,
Kobayashi M,
Lilic D,
Milner JD,
Holland S,
Casanova JL,
Puel A;
International STAT1 Gain-of-Function Study Group
Blood
2016 Jun 23;127(25):3154-64.
Epub 2016 Apr 25
doi: 10.1182/blood-2015-11-679902.
PMID: 27114460Free PMC Article