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21 results

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Page 1
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Kostel Bal S, Giuliani S, Block J, Repiscak P, Hafemeister C, Shahin T, Kasap N, Ransmayr B, Miao Y, van de Wetering C, Frohne A, Jimenez Heredia R, Schuster M, Zoghi S, Hertlein V, Thian M, Bykov A, Babayeva R, Bilgic Eltan S, Karakoc-Aydiner E, Shaw LE, Chowdhury I, Varjosalo M, Argüello RJ, Farlik M, Ozen A, Serfling E, Dupré L, Bock C, Halbritter F, Hannich JT, Castanon I, Kraakman MJ, Baris S, Boztug K. Kostel Bal S, et al. Among authors: frohne a. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.
Tuna Kırsaçlıoğlu C, Frohne A, Kuloğlu Z, Kristofersdottir I, Demir E, Altuntaş C, Haskoloğlu ZŞ, Çobanoğlu FN, Kendirli T, Özdemir H, Özçakar ZB, Savaş B, Doğu F, İkincioğulları A, Boztug K, Kansu A. Tuna Kırsaçlıoğlu C, et al. Among authors: frohne a. J Clin Immunol. 2024 Apr 27;44(5):108. doi: 10.1007/s10875-024-01707-8. J Clin Immunol. 2024. PMID: 38676845 Free PMC article.
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.
Karakus IS, Catak MC, Frohne A, Bayram Catak F, Yorgun Altunbas M, Babayeva R, Bal SK, Eltan SB, Yalcin Gungoren E, Esen F, Zemheri IE, Karakoc-Aydiner E, Ozen A, Caki-Kilic S, Kraakman MJ, Boztug K, Baris S. Karakus IS, et al. Among authors: frohne a. J Clin Immunol. 2024 Apr 5;44(4):94. doi: 10.1007/s10875-024-01682-0. J Clin Immunol. 2024. PMID: 38578569 Free PMC article.
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L, Jimenez-Heredia R, Zeitlhofer P, Novak W, Eder SK, Segarra-Roca A, Frohne A, Nebral K, Haimel M, Geyeregger R, Roetzer-Londgin K, Haas OA, Boztug K. Kager L, et al. Among authors: frohne a. Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan. Hemasphere. 2024. PMID: 38434532 Free PMC article. No abstract available.
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Novak W, Berner J, Svaton M, Jimenez-Heredia R, Segarra-Roca A, Frohne A, Guiliani S, Rouhani D, Eder SK, Rottal A, Trapin D, Scheuchenstuhl A, Pickl WF, Simonitsch-Klupp I, Kager L, Boztug K. Novak W, et al. Among authors: frohne a. Br J Haematol. 2023 Nov;203(4):678-683. doi: 10.1111/bjh.19061. Epub 2023 Aug 30. Br J Haematol. 2023. PMID: 37646304
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
Berner J, van de Wetering C, Jimenez Heredia R, Rashkova C, Ferdinandusse S, Koster J, Weiss JG, Frohne A, Giuliani S, Waterham HR, Castanon I, Brunner J, Boztug K. Berner J, et al. Among authors: frohne a. J Allergy Clin Immunol. 2023 Oct;152(4):1025-1031.e2. doi: 10.1016/j.jaci.2023.06.013. Epub 2023 Jun 25. J Allergy Clin Immunol. 2023. PMID: 37364720 Free PMC article.
Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.
Fallahi M, Jamee M, Enayat J, Abdollahimajd F, Mesdaghi M, Khoddami M, Segarra-Roca A, Frohne A, Dmytrus J, Keramatipour M, Mansouri M, Eslamian G, Fallah S, Boztug K, Chavoshzadeh Z. Fallahi M, et al. Among authors: frohne a. Allergy Asthma Clin Immunol. 2022 Dec 24;18(1):111. doi: 10.1186/s13223-022-00749-0. Allergy Asthma Clin Immunol. 2022. PMID: 36566211 Free PMC article.
21 results