Ehl, Stephan

The European society for immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity

Seidel, M. G., Kindle, G., Gathmann, B., Quinti, I., Buckland, M., van Montfrans, J., Scheible, R., Rusch, S., Gasteiger, L. M., Grimbacher, B., et al. (2019) · The Journal of Allergy and Clinical Immunology In Practice

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Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Hadjadj, J., Castro, C. N., Tusseau, M., Stolzenberg, M.-C., Mazerolles, F., Aladjidi, N., Armstrong, M., Ashrafian, H., Cutcutache, I., Ebetsberger-Dachs, G., et al. (2020) · Nature Communications

Cytokine Signaling Pathways and InteractionsImmunodeficiency and Autoimmune Disorders

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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Miot, C., Imai, K., Imai, C., Mancini, A. J., Kucuk, Z. Y., Kawai, T., Nishikomori, R., Ito, E., Pellier, I., Dupuis Girod, S., et al. (2017) · Blood

Immunodeficiency and Autoimmune DisordersHematopoietic Stem Cell Transplantation

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NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

Castro, C. N., Rosenzwajg, M., Carapito, R., Shahrooei, M., Konantz, M., Khan, A., Miao, Z., Groß, M., Tranchant, T., Radosavljevic, M., et al. (2020) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersAutoimmune and Inflammatory Disorders Research

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