Etiology
Tusseau M,
Khaldi-Plassart S,
Cognard J,
Viel S,
Khoryati L,
Benezech S,
Mathieu AL,
Rieux-Laucat F,
Bader-Meunier B,
Belot A
J Clin Immunol
2024 Apr 15;44(4):99.
doi: 10.1007/s10875-024-01696-8.
PMID: 38619739
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: 37769878Free PMC Article
Peng X,
Kaviany S
Rheum Dis Clin North Am
2023 Nov;49(4):731-739.
Epub 2023 Jul 21
doi: 10.1016/j.rdc.2023.06.001.
PMID: 37821192
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
Moghaddas F
Intern Med J
2020 Feb;50(2):151-164.
doi: 10.1111/imj.14414.
PMID: 31260149
Diagnosis
Akalu YT,
Bogunovic D
Nat Rev Genet
2024 Mar;25(3):184-195.
Epub 2023 Oct 20
doi: 10.1038/s41576-023-00656-z.
PMID: 37863939
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
Manna R,
Rigante D
Intern Emerg Med
2021 Oct;16(7):1759-1770.
Epub 2021 May 17
doi: 10.1007/s11739-021-02751-7.
PMID: 33999387Free PMC Article
Meier-Schiesser B,
French LE
J Dtsch Dermatol Ges
2021 Mar;19(3):400-426.
Epub 2021 Feb 23
doi: 10.1111/ddg.14332.
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
doi: 10.1007/s10875-020-00758-x.
PMID: 32048120Free PMC Article
Therapy
Zhi H,
Fu H,
Zhang Y,
Fan N,
Zhao C,
Li Y,
Sun Y,
Li Y
Front Immunol
2024;15:1510628.
Epub 2024 Dec 16
doi: 10.3389/fimmu.2024.1510628.
PMID: 39737190Free PMC Article
He T,
Xia Y,
Yang J
Pediatr Rheumatol Online J
2021 Jan 22;19(1):9.
doi: 10.1186/s12969-021-00497-2.
PMID: 33482855Free PMC Article
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
Kallinich T
Semin Immunopathol
2015 Jul;37(4):429-37.
Epub 2015 Jun 10
doi: 10.1007/s00281-015-0501-9.
PMID: 26059720
Prognosis
James AE,
Abdalgani M,
Khoury P,
Freeman AF,
Milner JD
J Allergy Clin Immunol
2024 Aug;154(2):245-254.
Epub 2024 May 17
doi: 10.1016/j.jaci.2024.05.007.
PMID: 38761995
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
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
Costagliola G,
Consolini R
Clin Exp Immunol
2021 Sep;205(3):288-305.
Epub 2021 Jun 20
doi: 10.1111/cei.13620.
PMID: 34008169Free 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
Clinical prediction guides
Ramba M,
Bogunovic D
Immunol Rev
2024 Mar;322(1):300-310.
Epub 2023 Dec 5
doi: 10.1111/imr.13296.
PMID: 38050836Free PMC Article
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: 37769878Free PMC Article
Costagliola G,
Consolini R
Clin Exp Immunol
2021 Sep;205(3):288-305.
Epub 2021 Jun 20
doi: 10.1111/cei.13620.
PMID: 34008169Free PMC Article
Broderick L,
Hoffman HM
J Allergy Clin Immunol
2020 Nov;146(5):960-966.e2.
Epub 2020 Sep 28
doi: 10.1016/j.jaci.2020.09.019.
PMID: 33002514Free 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