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1992 1
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2012 6
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204 results

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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
Taghizade N, Babayeva R, Kara A, Karakus IS, Catak MC, Bulutoglu A, Haskologlu ZS, Akay Haci I, Tunakan Dalgic C, Karabiber E, Bilgic Eltan S, Yorgun Altunbas M, Sefer AP, Sezer A, Kokcu Karadag SI, Arik E, Karali Z, Ozhan Kont A, Tuzer C, Karaman S, Mersin SS, Kasap N, Celik E, Kocacik Uygun DF, Aydemir S, Kiykim A, Aydogmus C, Ozek Yucel E, Celmeli F, Karatay E, Bozkurtlar E, Demir S, Metin A, Karaca NE, Kutukculer N, Aksu G, Guner SN, Keles S, Reisli I, Kendir Demirkol Y, Arikoglu T, Gulez N, Genel F, Kilic SS, Aytekin C, Keskin O, Yildiran A, Ozcan D, Altintas DU, Ardeniz FO, Dogu EF, Ikinciogullari KA, Karakoc-Aydiner E, Ozen A, Baris S. Taghizade N, et al. Among authors: kilic ss. J Allergy Clin Immunol. 2023 Dec;152(6):1634-1645. doi: 10.1016/j.jaci.2023.08.004. Epub 2023 Aug 16. J Allergy Clin Immunol. 2023. PMID: 37595759
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
Editorial: Women in primary immunodeficiencies.
Kilic SS. Kilic SS. Front Immunol. 2023 Oct 12;14:1268595. doi: 10.3389/fimmu.2023.1268595. eCollection 2023. Front Immunol. 2023. PMID: 37901216 Free PMC article. No abstract available.
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH. Vallée TC, et al. Among authors: kilic ss. Blood. 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. Blood. 2024. PMID: 38579284 Free article.
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, Halpern J, Mulwa J, Keating N, Chrabieh M, Lainé C, Seeleuthner Y, Ramírez-Alejo N, Nekooie-Marnany N, Guennoun A, Muller-Fleckenstein I, Fleckenstein B, Kilic SS, Minegishi Y, Ehl S, Kaiser-Labusch P, Kendir-Demirkol Y, Rozenberg F, Errami A, Zhang SY, Zhang Q, Bohlen J, Philippot Q, Puel A, Jouanguy E, Pourmoghaddas Z, Bakhtiar S, Willasch AM, Horneff G, Llanora G, Shek LP, Chai LYA, Tay SH, Rahimi HH, Mahdaviani SA, Nepesov S, Bousfiha AA, Erdeniz EH, Karbuz A, Marr N, Navarrete C, Adeli M, Hammarstrom L, Abolhassani H, Parvaneh N, Al Muhsen S, Alosaimi MF, Alsohime F, Nourizadeh M, Moin M, Arnaout R, Alshareef S, El-Baghdadi J, Genel F, Sherkat R, Kiykim A, Yücel E, Keles S, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S. Ogishi M, et al. Among authors: kilic ss. J Exp Med. 2022 Oct 3;219(10):e20220094. doi: 10.1084/jem.20220094. Epub 2022 Sep 12. J Exp Med. 2022. PMID: 36094518 Free PMC article.
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A, Durmaz A, Karaca N, Gulez N, Genel F, Celmeli F, Cogurlu MT, Akcan M, Cicek D, Cipe FE, Kiykim A, Yıldıran A, Unluhizarci K, Kilic SS, Aksu G, Ardeniz O, Kutukculer N. Aykut A, et al. Among authors: kilic ss. Immunol Res. 2024 Aug;72(4):714-726. doi: 10.1007/s12026-024-09477-6. Epub 2024 Apr 22. Immunol Res. 2024. PMID: 38644452 Free PMC article.
MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.
Gulec Koksal Z, Bilgic Eltan S, Topyildiz E, Sezer A, Keles S, Celebi Celik F, Ozhan Kont A, Gemici Karaaslan B, Sefer AP, Karali Z, Arik E, Ozek Yucel E, Akcal O, Karakurt LT, Yorgun Altunbas M, Yalcin K, Uygun V, Ozek G, Babayeva R, Aydogmus C, Ozcan D, Cavkaytar O, Keskin O, Kilic SS, Kiykim A, Arikoglu T, Genel F, Gulez N, Guner SN, Karaca NE, Reisli I, Kutukculer N, Altintas DU, Ozen A, Karakoc Aydiner E, Baris S. Gulec Koksal Z, et al. Among authors: kilic ss. J Allergy Clin Immunol Pract. 2024 Sep;12(9):2490-2502.e6. doi: 10.1016/j.jaip.2024.06.046. Epub 2024 Jul 10. J Allergy Clin Immunol Pract. 2024. PMID: 38996837
A rare disease with many faces: a multicentre registry of IgG4-related disease in children.
Kaya Akca U, Kose H, Kurt T, Ulu K, Guliyeva V, Kılbas G, Arslanoglu C, Yildirim DG, Demir S, Sahin S, Kısaarslan AP, Kasap Demir B, Sonmez HE, Koker O, Yardimci GK, Ekici M, Kilic SS, Celikel Acar B, Sozeri B, Aktay Ayaz N, Yuksel S, Bakkaloglu SA, Kasapcopur O, Saglam EA, Karadag O, Ozen S, Bilginer Y. Kaya Akca U, et al. Among authors: kilic ss. Rheumatology (Oxford). 2025 Apr 1;64(4):2185-2192. doi: 10.1093/rheumatology/keae497. Rheumatology (Oxford). 2025. PMID: 39298509
204 results