Etiology
Tusseau M,
Khaldi-Plassart S,
Cognard J,
Viel S,
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Mace E,
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Ombrello MJ
J Allergy Clin Immunol
2024 Jan;153(1):230-242.
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Aksentijevich I,
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Nat Rev Rheumatol
2021 Jul;17(7):405-425.
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Meier-Schiesser B,
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J Dtsch Dermatol Ges
2021 Mar;19(3):400-426.
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J Pediatr (Rio J)
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Diagnosis
López-Nevado M,
González-Granado LI,
Ruiz-García R,
Pleguezuelo D,
Cabrera-Marante O,
Salmón N,
Blanco-Lobo P,
Domínguez-Pinilla N,
Rodríguez-Pena R,
Sebastián E,
Cruz-Rojo J,
Olbrich P,
Ruiz-Contreras J,
Paz-Artal E,
Neth O,
Allende LM
Front Immunol
2021;12:671755.
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Manna R,
Rigante D
Intern Emerg Med
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Meier-Schiesser B,
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J Dtsch Dermatol Ges
2021 Mar;19(3):400-426.
Epub 2021 Feb 23
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PMID: 33620111
Bousfiha A,
Jeddane L,
Picard C,
Al-Herz W,
Ailal F,
Chatila T,
Cunningham-Rundles C,
Etzioni A,
Franco JL,
Holland SM,
Klein C,
Morio T,
Ochs HD,
Oksenhendler E,
Puck J,
Torgerson TR,
Casanova JL,
Sullivan KE,
Tangye SG
J Clin Immunol
2020 Jan;40(1):66-81.
Epub 2020 Feb 11
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Hoffman HM,
Broderick L
J Allergy Clin Immunol
2016 Jul;138(1):3-14.
Epub 2016 May 17
doi: 10.1016/j.jaci.2016.05.001.
PMID: 27373321
Therapy
He T,
Xia Y,
Yang J
Pediatr Rheumatol Online J
2021 Jan 22;19(1):9.
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Hoffman HM,
Broderick L
J Allergy Clin Immunol
2016 Jul;138(1):3-14.
Epub 2016 May 17
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PMID: 27373321
Kallinich T
Semin Immunopathol
2015 Jul;37(4):429-37.
Epub 2015 Jun 10
doi: 10.1007/s00281-015-0501-9.
PMID: 26059720
Prognosis
Sacco KA,
Notarangelo LD,
Delmonte OM
Clin Microbiol Infect
2023 Apr;29(4):457-462.
Epub 2022 Oct 6
doi: 10.1016/j.cmi.2022.10.003.
PMID: 36209991Free PMC Article
Funes SC,
Rios M,
Fernández-Fierro A,
Di Genaro MS,
Kalergis AM
Front Immunol
2022;13:868343.
Epub 2022 Apr 8
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PMID: 35464438Free PMC Article
López-Nevado M,
González-Granado LI,
Ruiz-García R,
Pleguezuelo D,
Cabrera-Marante O,
Salmón N,
Blanco-Lobo P,
Domínguez-Pinilla N,
Rodríguez-Pena R,
Sebastián E,
Cruz-Rojo J,
Olbrich P,
Ruiz-Contreras J,
Paz-Artal E,
Neth O,
Allende LM
Front Immunol
2021;12:671755.
Epub 2021 Aug 10
doi: 10.3389/fimmu.2021.671755.
PMID: 34447369Free PMC Article
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.
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Li Y,
Klein C,
Kotlarz D
Cold Spring Harb Perspect Biol
2020 Jul 1;12(7)
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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
Funes SC,
Rios M,
Fernández-Fierro A,
Di Genaro MS,
Kalergis AM
Front Immunol
2022;13:868343.
Epub 2022 Apr 8
doi: 10.3389/fimmu.2022.868343.
PMID: 35464438Free PMC Article
Espinosa JM
Cell Rep Med
2020 May 19;1(2):100019.
Epub 2020 May 1
doi: 10.1016/j.xcrm.2020.100019.
PMID: 32501455Free PMC Article
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
Li Y,
Klein C,
Kotlarz D
Cold Spring Harb Perspect Biol
2020 Jul 1;12(7)
doi: 10.1101/cshperspect.a037036.
PMID: 31843991Free PMC Article