Inborn Errors of Immunity: how to diagnose them?

Picard, 2018, International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity, J Clin Immunol, 38, 96, 10.1007/s10875-017-0464-9 Tangye, 2020, Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee, J Clin Immunol, 40, 24, 10.1007/s10875-019-00737-x Chan, 2020, Primary immune regulatory disorders: a growing universe of immune dysregulation, Curr Opin Allergy Clin Immunol, 20, 582, 10.1097/ACI.0000000000000689 Bousfiha, 2020, Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification, J Clin Immunol, 40, 66, 10.1007/s10875-020-00758-x Rosenzweig, 2020, Laboratory evaluation of primary immunodeficiency disorders Cordero, 2020, Executive summary of the Consensus Document on the diagnosis and management of patients with primary immunodeficiencies, J Allergy Clin Immunol Pract, 8, 3342, 10.1016/j.jaip.2020.05.008 Chinen, 2019, Approach to the Evaluation of the Patient With Suspected Immunodeficiency, Clinical Immunology, 451, 10.1016/B978-0-7020-6896-6.00032-6 Perez, 2017, Specific antibody deficiency: controversies in diagnosis and management, Front Immunol, 8, 586, 10.3389/fimmu.2017.00586 Sorensen, 2014, Measurement of pneumococcal polysaccharide antibodies, J Clin Immunol, 34, 127, 10.1007/s10875-013-9977-z Puck, 2019, Newborn screening for severe combined immunodeficiency and T-cell lymphopenia, Immunol Rev, 287, 241, 10.1111/imr.12729 Borte, 2013, Guidelines for newborn screening of primary immunodeficiency diseases, Curr Opin Hematol, 20, 48, 10.1097/MOH.0b013e32835a9130 Dale, 2011, Cyclic and chronic neutropenia, Cancer Treat Res, 157, 97, 10.1007/978-1-4419-7073-2_6 Zergham, 2020 Agudelo-Florez, 2006, Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics, Pediatr Blood Cancer, 46, 243, 10.1002/pbc.20455 Brodszki, 2020, European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management, J Clin Immunol, 40, 576, 10.1007/s10875-020-00754-1 Ma, 2019, Flow cytometric-based analysis of defects in lymphocyte differentiation and function due to inborn errors of immunity, Front Immunol, 10, 2108, 10.3389/fimmu.2019.02108 Kanegane, 2018, Flow cytometry-based diagnosis of primary immunodeficiency diseases, Allergol Int, 67, 43, 10.1016/j.alit.2017.06.003 Knight, 2019, The utility of flow cytometry for the diagnosis of primary immunodeficiencies, Int J Lab Hematol, 41, S63, 10.1111/ijlh.13010 Ramirez-Alejo, 2014, Innate defects of the IL-12/IFN-gamma axis in susceptibility to infections by mycobacteria and salmonella, J Interferon Cytokine Res, 34, 307, 10.1089/jir.2013.0050 Chinn, 2020, Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology, J Allergy Clin Immunol, 145, 46, 10.1016/j.jaci.2019.09.009 Heimall, 2018, Use of genetic testing for primary immunodeficiency patients, J Clin Immunol, 38, 320, 10.1007/s10875-018-0489-8 Meyts, 2016, Exome and genome sequencing for inborn errors of immunity, J Allergy Clin Immunol, 138, 957, 10.1016/j.jaci.2016.08.003 Torgerson, 2020