Etiology
Fichna M,
Żurawek M,
Słomiński B,
Sumińska M,
Czarnywojtek A,
Rozwadowska N,
Fichna P,
Myśliwiec M,
Ruchała M
Endocrine
2021 Oct;74(1):72-79.
Epub 2021 May 8
doi: 10.1007/s12020-021-02743-9.
PMID: 33966174Free 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
Van den Driessche A,
Eenkhoorn V,
Van Gaal L,
De Block C
Neth J Med
2009 Dec;67(11):376-87.
PMID: 20009114
Atassi MZ,
Casali P
Autoimmunity
2008 Mar;41(2):123-32.
doi: 10.1080/08916930801929021.
PMID: 18324481
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
Fichna M,
Żurawek M,
Słomiński B,
Sumińska M,
Czarnywojtek A,
Rozwadowska N,
Fichna P,
Myśliwiec M,
Ruchała M
Endocrine
2021 Oct;74(1):72-79.
Epub 2021 May 8
doi: 10.1007/s12020-021-02743-9.
PMID: 33966174Free 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
Frommer L,
Kahaly GJ
J Clin Endocrinol Metab
2019 Oct 1;104(10):4769-4782.
doi: 10.1210/jc.2019-00602.
PMID: 31127843
Van den Driessche A,
Eenkhoorn V,
Van Gaal L,
De Block C
Neth J Med
2009 Dec;67(11):376-87.
PMID: 20009114
Therapy
Li CW,
Osman R,
Menconi F,
Faustino LC,
Kim K,
Clarke OB,
Hou H,
Tomer Y
Front Immunol
2021;12:796552.
Epub 2021 Dec 20
doi: 10.3389/fimmu.2021.796552.
PMID: 34987519Free PMC Article
van Wanrooij RLJ,
Neefjes-Borst EA,
Bontkes HJ,
Schreurs MWJ,
Langerak AW,
Mulder CJJ,
Bouma G
Clin Transl Gastroenterol
2021 Aug 1;12(8):e00387.
doi: 10.14309/ctg.0000000000000387.
PMID: 34333499Free PMC Article
Shi Y,
Shen M,
Zheng X,
Chen Y,
Zhao R,
Gu Y,
Yang T
J Clin Endocrinol Metab
2020 Dec 1;105(12)
doi: 10.1210/clinem/dgaa553.
PMID: 32905579
Pham-Dobor G,
Hanák L,
Hegyi P,
Márta K,
Párniczky A,
Gergics M,
Sarlós P,
Erőss B,
Mezősi E
J Endocrinol Invest
2020 Sep;43(9):1-9.
Epub 2020 Aug 17
doi: 10.1007/s40618-020-01229-1.
PMID: 32227311Free PMC Article
Barzaghi F,
Amaya Hernandez LC,
Neven B,
Ricci S,
Kucuk ZY,
Bleesing JJ,
Nademi Z,
Slatter MA,
Ulloa ER,
Shcherbina A,
Roppelt A,
Worth A,
Silva J,
Aiuti A,
Murguia-Favela L,
Speckmann C,
Carneiro-Sampaio M,
Fernandes JF,
Baris S,
Ozen A,
Karakoc-Aydiner E,
Kiykim A,
Schulz A,
Steinmann S,
Notarangelo LD,
Gambineri E,
Lionetti P,
Shearer WT,
Forbes LR,
Martinez C,
Moshous D,
Blanche S,
Fisher A,
Ruemmele FM,
Tissandier C,
Ouachee-Chardin M,
Rieux-Laucat F,
Cavazzana M,
Qasim W,
Lucarelli B,
Albert MH,
Kobayashi I,
Alonso L,
Diaz De Heredia C,
Kanegane H,
Lawitschka A,
Seo JJ,
Gonzalez-Vicent M,
Diaz MA,
Goyal RK,
Sauer MG,
Yesilipek A,
Kim M,
Yilmaz-Demirdag Y,
Bhatia M,
Khlevner J,
Richmond Padilla EJ,
Martino S,
Montin D,
Neth O,
Molinos-Quintana A,
Valverde-Fernandez J,
Broides A,
Pinsk V,
Ballauf A,
Haerynck F,
Bordon V,
Dhooge C,
Garcia-Lloret ML,
Bredius RG,
Kałwak K,
Haddad E,
Seidel MG,
Duckers G,
Pai SY,
Dvorak CC,
Ehl S,
Locatelli F,
Goldman F,
Gennery AR,
Cowan MJ,
Roncarolo MG,
Bacchetta R;
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
J Allergy Clin Immunol
2018 Mar;141(3):1036-1049.e5.
Epub 2017 Dec 11
doi: 10.1016/j.jaci.2017.10.041.
PMID: 29241729Free PMC Article
Prognosis
Li CW,
Osman R,
Menconi F,
Faustino LC,
Kim K,
Clarke OB,
Hou H,
Tomer Y
Front Immunol
2021;12:796552.
Epub 2021 Dec 20
doi: 10.3389/fimmu.2021.796552.
PMID: 34987519Free 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
Radermacher LK,
Ponto K,
Merkesdal S,
Pomart V,
Frommer L,
Pfeiffer N,
König J,
Kahaly GJ
J Clin Endocrinol Metab
2020 Apr 1;105(4)
doi: 10.1210/clinem/dgz021.
PMID: 31529067
Barzaghi F,
Amaya Hernandez LC,
Neven B,
Ricci S,
Kucuk ZY,
Bleesing JJ,
Nademi Z,
Slatter MA,
Ulloa ER,
Shcherbina A,
Roppelt A,
Worth A,
Silva J,
Aiuti A,
Murguia-Favela L,
Speckmann C,
Carneiro-Sampaio M,
Fernandes JF,
Baris S,
Ozen A,
Karakoc-Aydiner E,
Kiykim A,
Schulz A,
Steinmann S,
Notarangelo LD,
Gambineri E,
Lionetti P,
Shearer WT,
Forbes LR,
Martinez C,
Moshous D,
Blanche S,
Fisher A,
Ruemmele FM,
Tissandier C,
Ouachee-Chardin M,
Rieux-Laucat F,
Cavazzana M,
Qasim W,
Lucarelli B,
Albert MH,
Kobayashi I,
Alonso L,
Diaz De Heredia C,
Kanegane H,
Lawitschka A,
Seo JJ,
Gonzalez-Vicent M,
Diaz MA,
Goyal RK,
Sauer MG,
Yesilipek A,
Kim M,
Yilmaz-Demirdag Y,
Bhatia M,
Khlevner J,
Richmond Padilla EJ,
Martino S,
Montin D,
Neth O,
Molinos-Quintana A,
Valverde-Fernandez J,
Broides A,
Pinsk V,
Ballauf A,
Haerynck F,
Bordon V,
Dhooge C,
Garcia-Lloret ML,
Bredius RG,
Kałwak K,
Haddad E,
Seidel MG,
Duckers G,
Pai SY,
Dvorak CC,
Ehl S,
Locatelli F,
Goldman F,
Gennery AR,
Cowan MJ,
Roncarolo MG,
Bacchetta R;
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
J Allergy Clin Immunol
2018 Mar;141(3):1036-1049.e5.
Epub 2017 Dec 11
doi: 10.1016/j.jaci.2017.10.041.
PMID: 29241729Free PMC Article
Wémeau JL,
Proust-Lemoine E,
Ryndak A,
Vanhove L
Hormones (Athens)
2013 Jan-Mar;12(1):39-45.
doi: 10.1007/BF03401285.
PMID: 23624130
Clinical prediction guides
Bouça B,
Nogueira A,
Caetano J,
Cardoso R,
Dinis I,
Mirante A
J Pediatr Endocrinol Metab
2022 Apr 26;35(4):477-480.
Epub 2022 Feb 16
doi: 10.1515/jpem-2022-0050.
PMID: 35170268
van Wanrooij RLJ,
Neefjes-Borst EA,
Bontkes HJ,
Schreurs MWJ,
Langerak AW,
Mulder CJJ,
Bouma G
Clin Transl Gastroenterol
2021 Aug 1;12(8):e00387.
doi: 10.14309/ctg.0000000000000387.
PMID: 34333499Free 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
Radermacher LK,
Ponto K,
Merkesdal S,
Pomart V,
Frommer L,
Pfeiffer N,
König J,
Kahaly GJ
J Clin Endocrinol Metab
2020 Apr 1;105(4)
doi: 10.1210/clinem/dgz021.
PMID: 31529067
Wémeau JL,
Proust-Lemoine E,
Ryndak A,
Vanhove L
Hormones (Athens)
2013 Jan-Mar;12(1):39-45.
doi: 10.1007/BF03401285.
PMID: 23624130