Etiology
Bastard P,
Gervais A,
Le Voyer T,
Philippot Q,
Cobat A,
Rosain J,
Jouanguy E,
Abel L,
Zhang SY,
Zhang Q,
Puel A,
Casanova JL
Immunol Rev
2024 Mar;322(1):98-112.
Epub 2024 Jan 9
doi: 10.1111/imr.13304.
PMID: 38193358Free PMC Article
Le Voyer T,
Parent AV,
Liu X,
Cederholm A,
Gervais A,
Rosain J,
Nguyen T,
Perez Lorenzo M,
Rackaityte E,
Rinchai D,
Zhang P,
Bizien L,
Hancioglu G,
Ghillani-Dalbin P,
Charuel JL,
Philippot Q,
Gueye MS,
Maglorius Renkilaraj MRL,
Ogishi M,
Soudée C,
Migaud M,
Rozenberg F,
Momenilandi M,
Riller Q,
Imberti L,
Delmonte OM,
Müller G,
Keller B,
Orrego J,
Franco Gallego WA,
Rubin T,
Emiroglu M,
Parvaneh N,
Eriksson D,
Aranda-Guillen M,
Berrios DI,
Vong L,
Katelaris CH,
Mustillo P,
Raedler J,
Bohlen J,
Bengi Celik J,
Astudillo C,
Winter S;
NF-κB Consortium;
COVID Human Genetic Effort,
McLean C,
Guffroy A,
DeRisi JL,
Yu D,
Miller C,
Feng Y,
Guichard A,
Béziat V,
Bustamante J,
Pan-Hammarström Q,
Zhang Y,
Rosen LB,
Holland SM,
Bosticardo M,
Kenney H,
Castagnoli R,
Slade CA,
Boztuğ K,
Mahlaoui N,
Latour S,
Abraham RS,
Lougaris V,
Hauck F,
Sediva A,
Atschekzei F,
Sogkas G,
Poli MC,
Slatter MA,
Palterer B,
Keller MD,
Pinzon-Charry A,
Sullivan A,
Droney L,
Suan D,
Wong M,
Kane A,
Hu H,
Ma C,
Grombiříková H,
Ciznar P,
Dalal I,
Aladjidi N,
Hie M,
Lazaro E,
Franco J,
Keles S,
Malphettes M,
Pasquet M,
Maccari ME,
Meinhardt A,
Ikinciogullari A,
Shahrooei M,
Celmeli F,
Frosk P,
Goodnow CC,
Gray PE,
Belot A,
Kuehn HS,
Rosenzweig SD,
Miyara M,
Licciardi F,
Servettaz A,
Barlogis V,
Le Guenno G,
Herrmann VM,
Kuijpers T,
Ducoux G,
Sarrot-Reynauld F,
Schuetz C,
Cunningham-Rundles C,
Rieux-Laucat F,
Tangye SG,
Sobacchi C,
Doffinger R,
Warnatz K,
Grimbacher B,
Fieschi C,
Berteloot L,
Bryant VL,
Trouillet Assant S,
Su H,
Neven B,
Abel L,
Zhang Q,
Boisson B,
Cobat A,
Jouanguy E,
Kampe O,
Bastard P,
Roifman CM,
Landegren N,
Notarangelo LD,
Anderson MS,
Casanova JL,
Puel A
Nature
2023 Nov;623(7988):803-813.
Epub 2023 Nov 8
doi: 10.1038/s41586-023-06717-x.
PMID: 37938781Free PMC Article
Laakso S,
Borchers J,
Toiviainen-Salo S,
Pekkinen M,
Mäkitie O
Front Endocrinol (Lausanne)
2020;11:109.
Epub 2020 Mar 6
doi: 10.3389/fendo.2020.00109.
PMID: 32210917Free PMC Article
Green L,
Dolen WK
Curr Allergy Asthma Rep
2017 May;17(5):31.
doi: 10.1007/s11882-017-0699-9.
PMID: 28429308
Kluger N,
Jokinen M,
Krohn K,
Ranki A
J Clin Gastroenterol
2013 Feb;47(2):112-20.
doi: 10.1097/MCG.0b013e31827356e1.
PMID: 23314667
Diagnosis
Frommer L,
Kahaly GJ
J Clin Endocrinol Metab
2019 Oct 1;104(10):4769-4782.
doi: 10.1210/jc.2019-00602.
PMID: 31127843
Constantine GM,
Lionakis MS
Immunol Rev
2019 Jan;287(1):103-120.
doi: 10.1111/imr.12714.
PMID: 30565240Free PMC Article
Green L,
Dolen WK
Curr Allergy Asthma Rep
2017 May;17(5):31.
doi: 10.1007/s11882-017-0699-9.
PMID: 28429308
Kisand K,
Peterson P
J Clin Immunol
2015 Jul;35(5):463-78.
Epub 2015 Jul 5
doi: 10.1007/s10875-015-0176-y.
PMID: 26141571
Browne SK
Annu Rev Immunol
2014;32:635-57.
Epub 2014 Feb 5
doi: 10.1146/annurev-immunol-032713-120222.
PMID: 24499273
Therapy
Gerbaux M,
Roos E,
Willemsen M,
Staels F,
Neumann J,
Bücken L,
Haughton J,
Yshii L,
Dooley J,
Schlenner S,
Humblet-Baron S,
Liston A
J Clin Immunol
2023 Aug;43(6):1393-1402.
Epub 2023 May 8
doi: 10.1007/s10875-023-01462-2.
PMID: 37156988Free PMC Article
Humbert L,
Cornu M,
Proust-Lemoine E,
Bayry J,
Wemeau JL,
Vantyghem MC,
Sendid B
Front Immunol
2018;9:2570.
Epub 2018 Nov 19
doi: 10.3389/fimmu.2018.02570.
PMID: 30510552Free PMC Article
Ling Y,
Puel A
Actas Dermosifiliogr
2014 Oct;105 Suppl 1:34-40.
doi: 10.1016/S0001-7310(14)70016-X.
PMID: 25398490
Kirou KA,
Gkrouzman E
Clin Immunol
2013 Sep;148(3):303-12.
Epub 2013 Mar 1
doi: 10.1016/j.clim.2013.02.013.
PMID: 23566912
Lankisch TO,
Jaeckel E,
Strassburg CP
Semin Liver Dis
2009 Aug;29(3):307-14.
Epub 2009 Aug 12
doi: 10.1055/s-0029-1233535.
PMID: 19676003
Prognosis
Borna Š,
Lee E,
Nideffer J,
Ramachandran A,
Wang B,
Baker J,
Mavers M,
Lakshmanan U,
Narula M,
Garrett AK,
Schulze J,
Olek S,
Marois L,
Gernez Y,
Bhatia M,
Chong HJ,
Walter J,
Kitcharoensakkul M,
Lang A,
Cooper MA,
Bertaina A,
Roncarolo MG,
Meffre E,
Bacchetta R
Sci Transl Med
2023 Dec 20;15(727):eadg6822.
doi: 10.1126/scitranslmed.adg6822.
PMID: 38117899
Couturier A,
Brézin AP
Curr Opin Ophthalmol
2016 Nov;27(6):505-513.
doi: 10.1097/ICU.0000000000000306.
PMID: 27606815
Kisand K,
Peterson P
J Clin Immunol
2015 Jul;35(5):463-78.
Epub 2015 Jul 5
doi: 10.1007/s10875-015-0176-y.
PMID: 26141571
Kluger N,
Jokinen M,
Krohn K,
Ranki A
J Clin Gastroenterol
2013 Feb;47(2):112-20.
doi: 10.1097/MCG.0b013e31827356e1.
PMID: 23314667
Proust-Lemoine E,
Saugier-Veber P,
Wémeau JL
Presse Med
2012 Dec;41(12 P 2):e651-62.
Epub 2012 Nov 23
doi: 10.1016/j.lpm.2012.10.005.
PMID: 23182677
Clinical prediction guides
Borna Š,
Lee E,
Nideffer J,
Ramachandran A,
Wang B,
Baker J,
Mavers M,
Lakshmanan U,
Narula M,
Garrett AK,
Schulze J,
Olek S,
Marois L,
Gernez Y,
Bhatia M,
Chong HJ,
Walter J,
Kitcharoensakkul M,
Lang A,
Cooper MA,
Bertaina A,
Roncarolo MG,
Meffre E,
Bacchetta R
Sci Transl Med
2023 Dec 20;15(727):eadg6822.
doi: 10.1126/scitranslmed.adg6822.
PMID: 38117899
Besnard M,
Sérazin C,
Ossart J,
Moreau A,
Vimond N,
Flippe L,
Sein H,
Smith GA,
Pittaluga S,
Ferré EM,
Usal C,
Anegon I,
Ranki A,
Lionakis MS,
Peterson P,
Guillonneau C
J Clin Invest
2022 Apr 1;132(7)
doi: 10.1172/JCI156507.
PMID: 35167497Free PMC Article
Besnard M,
Padonou F,
Provin N,
Giraud M,
Guillonneau C
Dis Model Mech
2021 Feb 5;14(2)
doi: 10.1242/dmm.046359.
PMID: 33729987Free PMC Article
Green L,
Dolen WK
Curr Allergy Asthma Rep
2017 May;17(5):31.
doi: 10.1007/s11882-017-0699-9.
PMID: 28429308
Ling Y,
Puel A
Actas Dermosifiliogr
2014 Oct;105 Suppl 1:34-40.
doi: 10.1016/S0001-7310(14)70016-X.
PMID: 25398490