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Zeitschrift

Journal of Clinical Immunology

International Journal of Inborn Errors of Immunity and Related Diseases

Journal of Clinical Immunology OnlineFirst articles

19.02.2020 | Original Article Open Access

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Hypomorphic IL2RG mutations may lead to milder phenotypes than X-SCID, named variably as atypical X-SCID or X-CID. We report an 11-year-old boy with a novel c. 172C>T;p.(Pro58Ser) mutation in IL2RG, presenting with atypical X-SCID phenotype. We …

17.02.2020 | Original Article Open Access

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

This guideline aims to describe the complement system and the functions of the constituent pathways, with particular focus on primary immunodeficiencies (PIDs) and their diagnosis and management. The complement system is a crucial part of the …

14.02.2020 | Original Article

Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study

Common variable immunodeficiency (CVID) results in defective B cell differentiation and impaired antibody production and is the most common symptomatic primary immunodeficiency. Our aim was to evaluate the correlation among B cell subgroups …

11.02.2020 | Original Article Open Access

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic …

10.02.2020 | Original Article

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency (PID) caused by inborn errors of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase components [ 1 – 5 ]. The assemble of NADPH oxidase complex is useful for the …

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Über diese Zeitschrift

The Journal of Clinical Immunology is an international journal that helps researchers and academic clinicians keep current on investigative basic immunology and diseases related to the immune system. This well-established journal publishes articles on basic, translational, and clinical studies in all aspects of immunology, including animal models of human diseases.

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