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Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations by Melis Yilmaz, Katarina Zmajkovicova, Rahim Z. Miller, Rahim Z. Miller, Grace Blair, Maryssa Ellison, Boglarka Ujhazi, Maria Chitty Lopez, Maria Chitty Lopez, Joseph F. Dasso, Jacob R. Bledsoe, Krisztian Csomos, Barbara Maierhofer, Adriana Badarau, Joao P. Pereira, Henry Kanarek, Christoph B. Geier, Christoph B. Geier, Jolan E. Walter, Jolan E. Walter
Published 2025-08-01Get full text
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Factors associated with and kinetics of anti–IFN-α autoantibodies in RAG1/2 deficiency by Chen Wang, MD, David Evan Potts, MSc, Bijun Sun, MD, Marta Toth, PhD, Boglarka Ujhazi, MSc, Svetlana Sharapova, PhD, Rahim Miller, BS, Lindsey Rosen, PhD, Melis Yilmaz, BS, Kellie Larsen, MSc, Ottavia M. Delmonte, MD, PhD, Laura E. Poskitt, DO, Eric J. Allenspach, MD, PhD, Maria Teresa de la Morena, MD, Brant R. Ward, MD, PhD, Joseph D. Hernandez, MD, PhD, Christoph B. Geier, MD, MSc, Hannie Zomer Bolanos, MD, Waleed Al-Herz, MD, Taco W. Kuijpers, MD, PhD, Andrej A. Petrov, MD, Sinisa Savic, MBBS, PhD, Karin Chen, MD, Emma Westermann-Clark, MD, Cullen M. Dutmer, MD, Maria G. Kanariou, MD, Mehdi Adeli, MD, Paolo Palma, MD, PhD, Carmem Bonfim, MD, PhD, Evangelia Lycopoulou, MD, Beata Wolska-Kusnierz, PhD, Mayra de Barros Dorna, MD, Ghassan Dbaibo, MD, Jack Bleesing, MD, PhD, Despina Moshous, MD, PhD, Francesco Licciardi, MD, Benedicte Neven, MD, PhD, Catharina Schuetz, MD, Raif S. Geha, MD, Maurizio Miano, MD, Stanton C. Goldman, MD, Jason Raasch, MD, Luis Ignacio Gonzalez-Granado, MD, Fatih Celmeli, MD, Safa Baris, MD, Roshini S. Abraham, PhD, David K. Buchbinder, MD, MSHS, Manish J. Butte, MD, PhD, Ji-Yang Wang, PhD, Xiaochuan Wang, MD, Kevin A. Strauss, MD, Steven M. Holland, MD, Luigi D. Notarangelo, MD, Jolan E. Walter, MD, PhD
Published 2025-08-01Get full text
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