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Human Heredity|July 26, 2014
Consanguinity and polygenic diseases: a model for antibody deficienciesValentina Di Pierro, Roberta Zuntini, Caterina Cancrini, et al.
Frontiers in Pediatrics|November 5, 2019
Rare TACI Mutation in a 3-Year-Old Boy With CVID PhenotypeLucia Leonardi, Giulia Lorenzetti, Rita Carsetti, et al.
Frontiers in Genetics|February 27, 2023
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndromeCesare Rossi, Sherin Ramadan, Cecilia Evangelisti, et al.
The Journal of Allergy and Clinical Immunology|February 8, 2005
The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiencyRita Carsetti, Maria Manuela Rosado, Simona Donnanno, et al.
European Journal of Immunology|July 28, 2011
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 functionMauro Giacomelli, Nicola Tamassia, Daniele Moratto, et al.
Digestive Diseases and Sciences|March 31, 2015
Gastrointestinal Pathologic Abnormalities in Pediatric- and Adult-Onset Common Variable ImmunodeficiencyVassilios Lougaris, Alberto Ravelli, Vincenzo Villanacci, et al.
Clinical Immunology (Orlando, Fla.)|July 17, 2022
Lymphocyte alterations in patients with Common Variable Immunodeficiency (CVID) and autoimmune manifestationsStefano Rossi, Manuela Baronio, Luisa Gazzurelli, et al.
The International Journal of Biochemistry & Cell Biology|April 23, 2016
A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assemblyAnna Maria Porcelli, Maria Antonietta Calvaruso, Luisa Iommarini, et al.
Frontiers in Pediatrics|September 7, 2021
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of LiteratureDaniele Zama, Edoardo Muratore, Arianna Giannetti, et al.
Journal of Clinical Immunology|April 15, 2011
Thymic and bone marrow output in patients with common variable immunodeficiencyFederico Serana, Paolo Airò, Marco Chiarini, et al.
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