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Journal of Clinical Immunology|November 13, 2012
Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profileWaleed Al-Herz, Osama Alsmadi, Motasem Melhem, et al.Journal of Clinical Immunology|May 13, 2014
RAG1 reversion mosaicism in a patient with Omenn syndromeElena Crestani, Sharon Choo, Francesco Frugoni, et al.The Journal of Allergy and Clinical Immunology|July 6, 2014
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiencyHassan Abolhassani, Ning Wang, Asghar Aghamohammadi, et al.The Journal of Allergy and Clinical Immunology|April 29, 2015
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiencyKerstin Felgentreff, Yu Nee Lee, Francesco Frugoni, et al.Clinical Immunology (Orlando, Fla.)|January 3, 2013
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemiaMike Recher, Ari J Fried, Michel J Massaad, et al.The Journal of Allergy and Clinical Immunology|May 18, 2018
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotypeIrit Tirosh, Yasuhiro Yamazaki, Francesco Frugoni, et al.Arthritis & Rheumatology (Hoboken, N.J.)|January 28, 2016
Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic ArthritisLauren A Henderson, Stefano Volpi, Francesco Frugoni, 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.Blood|February 4, 2012
B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in miceMike Recher, Siobhan O Burns, Miguel A de la Fuente, et al.Science Immunology|August 8, 2017
Characterization of T and B cell repertoire diversity in patients with RAG deficiencyYu Nee Lee, Francesco Frugoni, Kerry Dobbs, et al.Pageof 1