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Items: 12

1.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
2.

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Al Shehri T, Gilmour K, Gothe F, Loughlin S, Bibi S, Rowan AD, Grainger A, Mohanadas T, Cant AJ, Slatter MA, Hambleton S, Lilic D, Leahy TR.

J Clin Immunol. 2019 Nov;39(8):776-785. doi: 10.1007/s10875-019-00687-4. Epub 2019 Sep 11.

PMID:
31512162
3.

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.

Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D.

Inflamm Bowel Dis. 2019 Oct 18;25(11):1788-1795. doi: 10.1093/ibd/izz103.

PMID:
31115454
4.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ.

J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30.

5.

Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.

Acres MJ, Gothe F, Grainger A, Skelton AJ, Swan DJ, Willet JDP, Leech S, Galcheva S, Iotova V, Hambleton S, Engelhardt KR.

J Allergy Clin Immunol. 2019 Jan;143(1):413-416.e4. doi: 10.1016/j.jaci.2018.08.032. Epub 2018 Sep 8. No abstract available.

6.

Increasing Total Serum IgE, Allergic Bronchopulmonary Aspergillosis, and Lung Function in Cystic Fibrosis.

Gothe F, Kappler M, Griese M.

J Allergy Clin Immunol Pract. 2017 Nov - Dec;5(6):1591-1598.e6. doi: 10.1016/j.jaip.2017.03.033. Epub 2017 May 16.

PMID:
28526275
7.

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camcioglu Y, Celmeli F, Klein C, AlKhater SA, Casanova JL, Puel A.

Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073/pnas.1618300114. Epub 2016 Dec 7.

8.

Categorizing diffuse parenchymal lung disease in children.

Griese M, Irnstetter A, Hengst M, Burmester H, Nagel F, Ripper J, Feilcke M, Pawlita I, Gothe F, Kappler M, Schams A, Wesselak T, Rauch D, Wittmann T, Lohse P, Brasch F, Kröner C.

Orphanet J Rare Dis. 2015 Sep 25;10:122. doi: 10.1186/s13023-015-0339-1.

9.

Bile acid malabsorption assessed by 7 alpha-hydroxy-4-cholesten-3-one in pediatric inflammatory bowel disease: correlation to clinical and laboratory findings.

Gothe F, Beigel F, Rust C, Hajji M, Koletzko S, Freudenberg F.

J Crohns Colitis. 2014 Sep;8(9):1072-8. doi: 10.1016/j.crohns.2014.02.027. Epub 2014 Mar 22.

PMID:
24666974
10.

Serum 7-alpha-hydroxy-4-cholesten-3-one as a marker for bile acid loss in children.

Freudenberg F, Gothe F, Beigel F, Rust C, Koletzko S.

J Pediatr. 2013 Nov;163(5):1367-71.e1. doi: 10.1016/j.jpeds.2013.06.083. Epub 2013 Aug 20.

PMID:
23968740
11.

Cerebrovascular diseases and depression: epidemiology, mechanisms and treatment.

Göthe F, Enache D, Wahlund LO, Winblad B, Crisby M, Lökk J, Aarsland D.

Panminerva Med. 2012 Sep;54(3):161-70. Review.

PMID:
22801433
12.

Long-term EEG monitoring in neonatal and pediatric intensive care.

Thordstein M, Bågenholm R, Andreasson S, Ouchterlony J, Löfgren N, Göthe F, Nivall S, Hedström A, Lindecrantz K, Kjellmer I, Wallin BG.

Suppl Clin Neurophysiol. 2000;53:76-83. No abstract available.

PMID:
12740980

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