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23 results

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Page 1
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.
Chitty-Lopez M, Westermann-Clark E, Dawson I, Ujhazi B, Csomos K, Dobbs K, Le K, Yamazaki Y, Sadighi Akha AA, Chellapandian D, Oshrine B, Notarangelo LD, Sunkersett G, Leiding JW, Walter JE. Chitty-Lopez M, et al. Front Immunol. 2020 Sep 29;11:1954. doi: 10.3389/fimmu.2020.01954. eCollection 2020. Front Immunol. 2020. PMID: 33117328 Free PMC article.
RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.
Westermann-Clark E, Grossi A, Fioredda F, Giardino S, Cappelli E, Terranova P, Palmisani E, Farmer JR, Foldvari Z, Yamazaki Y, Faraci M, Lanino E, Notarangelo LD, Dufour C, Ceccherini I, Walter JE, Miano M. Westermann-Clark E, et al. Clin Immunol. 2018 Feb;187:102-103. doi: 10.1016/j.clim.2017.10.012. Epub 2017 Nov 20. Clin Immunol. 2018. PMID: 29104089 Free PMC article. No abstract available.
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Farmer JR, et al. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12. J Allergy Clin Immunol Pract. 2019. PMID: 30877075 Free PMC article.
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome.
Gaefke CL, Metts J, Imanirad D, Nieves D, Terranova P, Dell'Orso G, Gambineri E, Miano M, Lockey RF, Walter JE, Westermann-Clark E. Gaefke CL, et al. Among authors: westermann clark e. Front Pediatr. 2021 Mar 18;9:624116. doi: 10.3389/fped.2021.624116. eCollection 2021. Front Pediatr. 2021. PMID: 33816397 Free PMC article.
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Fliegauf M, Kinnunen M, Posadas-Cantera S, Camacho-Ordonez N, Abolhassani H, Alsina L, Atschekzei F, Bogaert DJ, Burns SO, Church JA, Dückers G, Freeman AF, Hammarström L, Hanitsch LG, Kerre T, Kobbe R, Sharapova SO, Siepermann K, Speckmann C, Steiner S, Verma N, Walter JE, Westermann-Clark E, Goldacker S, Warnatz K, Varjosalo M, Grimbacher B. Fliegauf M, et al. Among authors: westermann clark e. Front Immunol. 2022 Aug 29;13:965326. doi: 10.3389/fimmu.2022.965326. eCollection 2022. Front Immunol. 2022. PMID: 36105815 Free PMC article.
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.
Wang C, Sun B, Wu K, Farmer JR, Ujhazi B, Geier CB, Gordon S, Westermann-Clark E, Savic S, Secord E, Sargur R, Chen K, Jin JJ, Dutmer CM, Kanariou MG, Adeli M, Palma P, Bonfim C, Lycopoulou E, Wolska-Kusnierz B, Dbaibo G, Bleesing J, Moshous D, Neven B, Schuetz C, Geha RS, Notarangelo LD, Miano M, Buchbinder DK, Csomos K, Wang W, Wang JY, Wang X, Walter JE. Wang C, et al. Among authors: westermann clark e. Blood Adv. 2024 Feb 13;8(3):603-607. doi: 10.1182/bloodadvances.2023011264. Blood Adv. 2024. PMID: 37883797 Free PMC article. No abstract available.
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
Patel PK, Chinga ML, Yilmaz M, Joychan S, Ujhazi B, Ellison M, Gordon S, Nieves D, Csomos K, Eslin D, Afify ZA, Meznarich J, Bohnsack J, Walkovich K, Seidel MG, Sharapova S, Boyarchyk O, Latysheva E, Tuzankina I, Shaker AB, Ayala I, Sriaroon P, Westermann-Clark E, Walter JE. Patel PK, et al. Among authors: westermann clark e. J Clin Immunol. 2024 Jan 17;44(2):42. doi: 10.1007/s10875-023-01607-3. J Clin Immunol. 2024. PMID: 38231436
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
Patel PK, Chinga ML, Yilmaz M, Joychan S, Ujhazi B, Ellison M, Gordon S, Nieves D, Csomos K, Eslin D, Afify ZA, Meznarich J, Bohnsack J, Walkovich K, Seidel MG, Sharapova S, Boyarchuk O, Latysheva E, Tuzankina I, Shaker AB, Ayala I, Sriaroon P, Westermann-Clark E, Walter JE. Patel PK, et al. Among authors: westermann clark e. J Clin Immunol. 2024 Feb 29;44(3):72. doi: 10.1007/s10875-024-01677-x. J Clin Immunol. 2024. PMID: 38421526 No abstract available.
23 results