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Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societi...

Published in Journal of Clinical Immunology

We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years...

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Published in Journal of Clinical Immunology

ObjectivesMutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib.MethodsWe us...

Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations

Published in Journal of Clinical Immunology

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

Published in Journal of Clinical Immunology

Live-attenuated vaccines (LAVs) can protect humans against 12 viral and three bacterial diseases. By definition, any clinical infection caused by a LAV that is sufficiently severe to require medical intervention attests to an inherited or acquired immunodeficiency that must be diagnosed or identified. Self-healing infections can also result from mi...

Role of Allogeneic Hematopoietic Stem Cell Transplant for Chronic Granulomatous Disease (CGD): a Report of the United St...

Published in Journal of Clinical Immunology

PurposeChronic granulomatous disease (CGD) is a primary immunodeficiency for which allogeneic hematopoietic stem cell transplant (HSCT) offers potential cure. Direct comparison of HSCT to non-HSCT management in the North American population was performed to identify clinical factors associated with overall survival (OS) and transplant-related survi...

Variable Responses to Tocilizumab in Four Patients with Schnitzler Syndrome

Published in Journal of Clinical Immunology

Enterovirus-Associated HLH: Addition of Anakinra to IVIG and Corticosteroids

Published in Journal of Clinical Immunology

Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency

Published in Journal of Clinical Immunology

Fifteen Years of the J Project

Published in Journal of Clinical Immunology

IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome

Published in Journal of Clinical Immunology