Etiology
Gruper Y,
Wolff ASB,
Glanz L,
Spoutil F,
Marthinussen MC,
Osickova A,
Herzig Y,
Goldfarb Y,
Aranaz-Novaliches G,
Dobeš J,
Kadouri N,
Ben-Nun O,
Binyamin A,
Lavi B,
Givony T,
Khalaila R,
Gome T,
Wald T,
Mrazkova B,
Sochen C,
Besnard M,
Ben-Dor S,
Feldmesser E,
Orlova EM,
Hegedűs C,
Lampé I,
Papp T,
Felszeghy S,
Sedlacek R,
Davidovich E,
Tal N,
Shouval DS,
Shamir R,
Guillonneau C,
Szondy Z,
Lundin KEA,
Osicka R,
Prochazka J,
Husebye ES,
Abramson J
Nature
2023 Dec;624(7992):653-662.
Epub 2023 Nov 22
doi: 10.1038/s41586-023-06776-0.
PMID: 37993717
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
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
Szeliga A,
Calik-Ksepka A,
Maciejewska-Jeske M,
Grymowicz M,
Smolarczyk K,
Kostrzak A,
Smolarczyk R,
Rudnicka E,
Meczekalski B
Int J Mol Sci
2021 Mar 5;22(5)
doi: 10.3390/ijms22052594.
PMID: 33807517Free 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
Gruper Y,
Wolff ASB,
Glanz L,
Spoutil F,
Marthinussen MC,
Osickova A,
Herzig Y,
Goldfarb Y,
Aranaz-Novaliches G,
Dobeš J,
Kadouri N,
Ben-Nun O,
Binyamin A,
Lavi B,
Givony T,
Khalaila R,
Gome T,
Wald T,
Mrazkova B,
Sochen C,
Besnard M,
Ben-Dor S,
Feldmesser E,
Orlova EM,
Hegedűs C,
Lampé I,
Papp T,
Felszeghy S,
Sedlacek R,
Davidovich E,
Tal N,
Shouval DS,
Shamir R,
Guillonneau C,
Szondy Z,
Lundin KEA,
Osicka R,
Prochazka J,
Husebye ES,
Abramson J
Nature
2023 Dec;624(7992):653-662.
Epub 2023 Nov 22
doi: 10.1038/s41586-023-06776-0.
PMID: 37993717
Betterle C,
Furmaniak J,
Sabbadin C,
Scaroni C,
Presotto F
J Endocrinol Invest
2023 Apr;46(4):643-665.
Epub 2023 Jan 7
doi: 10.1007/s40618-022-01994-1.
PMID: 36609775
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
Ben-Skowronek I
Genes (Basel)
2021 Feb 24;12(3)
doi: 10.3390/genes12030323.
PMID: 33668198Free PMC Article
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
Therapy
De Marchi G,
de Pretis N,
Gabrieletto EM,
Amodio A,
Davì V,
Crinò SF,
Gabbrielli A,
Ciccocioppo R,
Frulloni L
Pancreas
2021 Nov-Dec 01;50(10):1363-1367.
doi: 10.1097/MPA.0000000000001925.
PMID: 35041334
Guarnotta V,
Pillitteri G,
Gambino G,
Radellini S,
Vigneri E,
Pizzolanti G,
Giordano C
J Endocrinol Invest
2021 Jul;44(7):1387-1394.
Epub 2020 Oct 24
doi: 10.1007/s40618-020-01421-3.
PMID: 33099763Free PMC Article
Horino T,
Ogasawara M,
Ichii O,
Terada Y
Rom J Intern Med
2020 Mar 1;58(1):40-43.
doi: 10.2478/rjim-2019-0024.
PMID: 31756165
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
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
Ben-Skowronek I
Genes (Basel)
2021 Feb 24;12(3)
doi: 10.3390/genes12030323.
PMID: 33668198Free PMC Article
Bin Dhuban K,
Piccirillo CA
Curr Opin Allergy Clin Immunol
2015 Dec;15(6):525-32.
doi: 10.1097/ACI.0000000000000214.
PMID: 26485097
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
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
Rackaityte E,
Proekt I,
Miller HS,
Ramesh A,
Brooks JF,
Kung AF,
Mandel-Brehm C,
Yu D,
Zamecnik CR,
Bair R,
Vazquez SE,
Sunshine S,
Abram CL,
Lowell CA,
Rizzuto G,
Wilson MR,
Zikherman J,
Anderson MS,
DeRisi JL
JCI Insight
2023 Dec 8;8(23)
doi: 10.1172/jci.insight.174976.
PMID: 37934865Free 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
Bin Dhuban K,
Piccirillo CA
Curr Opin Allergy Clin Immunol
2015 Dec;15(6):525-32.
doi: 10.1097/ACI.0000000000000214.
PMID: 26485097
Couturier A,
Saugier-Veber P,
Carel JC,
Bertherat J,
Brézin AP
Cornea
2015 Sep;34(9):1086-91.
doi: 10.1097/ICO.0000000000000513.
PMID: 26114819
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