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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.
Haematologica|May 22, 2008
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3Alessandra Santoro, Sonia Cannella, Antonino Trizzino, et al.
The Journal of Allergy and Clinical Immunology|September 9, 2018
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiencyDonald B Kohn, Michael S Hershfield, Jennifer M Puck, et al.
Iranian Journal of Allergy, Asthma, and Immunology|February 16, 2007
The italian network of primary immunodeficienciesAlessandro Plebani, Annarosa Soresina, Luigi D Notarangelo, et al.
The Journal of Allergy and Clinical Immunology|March 8, 2011
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP bindingMichel J Massaad, Narayanaswamy Ramesh, Severine Le Bras, et al.
The American Journal of Pathology|September 22, 2019
Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 SyndromeMelody P Lun, Morgan L Shannon, Sevgi Keles, et al.
European Journal of Immunology|June 20, 2014
Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cellsGerben Bouma, Natalie A Carter, Mike Recher, et al.
European Journal of Pediatrics|September 17, 2004
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndromeClaudia Fiorini, Sawssen Jilani, Claretta Gioia Losi, et al.
Immunologic Research|July 2, 2008
Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiencyEvelina Mazzolari, Donatella de Martiis, Concetta Forino, et al.
Diagnostic Microbiology and Infectious Disease|February 6, 2018
Presence of immune deficiency increases the risk of hospitalization in patients with norovirus infectionKeith A Sacco, Thanai Pongdee, Matthew J Binnicker, et al.
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