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Page 1
LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.
Ransmayr B, Bal SK, Thian M, Svaton M, van de Wetering C, Hafemeister C, Segarra-Roca A, Block J, Frohne A, Krolo A, Altunbas MY, Bilgic-Eltan S, Kıykım A, Aydiner O, Kesim S, Inanir S, Karakoc-Aydiner E, Ozen A, Aba Ü, Çomak A, Tuğcu GD, Pazdzior R, Huber B, Farlik M, Kubicek S, von Bernuth H, Simonitsch-Klupp I, Rizzi M, Halbritter F, Tumanov AV, Kraakman MJ, Metin A, Castanon I, Erman B, Baris S, Boztug K. Ransmayr B, et al. Sci Immunol. 2024 Nov 22;9(101):eadq8796. doi: 10.1126/sciimmunol.adq8796. Epub 2024 Nov 22. Sci Immunol. 2024. PMID: 39576873
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: ransmayr b. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
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: ransmayr b. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233 Free article.