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American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Clinical Immunology (Orlando, Fla.)|September 9, 2023
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patientsNalan Yakici, Alexandra Y Kreins, Mehmet Cihangir Catak, et al.
Clinical Immunology (Orlando, Fla.)|February 18, 2025
Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopeniaZainab M Golwala, Helena Spiridou Goncalves, Ranjita Devi Moirangthem, et al.
The Journal of Experimental Medicine|November 19, 2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiencyElena Blanco, Carme Camps, Sameer Bahal, et al.
Nature|November 20, 2024
A spatial human thymus cell atlas mapped to a continuous tissue axisNadav Yayon, Veronika R Kedlian, Lena Boehme, et al.
The Journal of Experimental Medicine|February 20, 2003
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implicationsClaire Fieschi, Stéphanie Dupuis, Emilie Catherinot, et al.
The Journal of Allergy and Clinical Immunology|February 18, 2010
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndromeCristina Woellner, E Michael Gertz, Alejandro A Schäffer, et al.
Journal of Clinical Immunology|September 3, 2021
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-TelangiectasiaStefan Zielen, Ruth Pia Duecker, Sandra Woelke, et al.
Medicine|November 9, 2010
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiencyCapucine Picard, Horst von Bernuth, Pegah Ghandil, et al.
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