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Eclinicalmedicine|June 23, 2025
Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET)Annarosa Soresina, Roberto Rondelli, Lucia Dora Notarangelo, et al.
Nature Medicine|December 5, 2018
Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphomaMatteo Menotti, Chiara Ambrogio, Taek-Chin Cheong, et al.
Blood|November 1, 2011
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivoMike Recher, Lucinda J Berglund, Danielle T Avery, et al.
Frontiers in Immunology|July 2, 2021
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII DeficiencyFrancesca Ferrua, Ileana Bortolomai, Elena Fontana, et al.
The Journal of Allergy and Clinical Immunology|July 9, 2013
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresiasRui Chen, Silvia Giliani, Gaetana Lanzi, et al.
Science Immunology|March 1, 2020
PAX1 is essential for development and function of the human thymusYasuhiro Yamazaki, Raul Urrutia, Luis M Franco, et al.
Frontiers in Immunology|August 29, 2019
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency NetworkEmilia Cirillo, Caterina Cancrini, Chiara Azzari, et al.
Nature Immunology|October 30, 2012
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyBertrand Boisson, Emmanuel Laplantine, Carolina Prando, et al.
Blood|June 11, 2011
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative studyDaniele Moratto, Silvia Giliani, Carmem Bonfim, et al.
The Journal of Allergy and Clinical Immunology|December 3, 2013
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiencyYu Nee Lee, Francesco Frugoni, Kerry Dobbs, et al.
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