Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

By S. Tangye, W. Al-Herz, A. Bousfiha, T. Chatila, C. Cunningham-Rundles, Amos Etzioni, J. Franco, S. Holland, C. Klein, T. Morio and 7 more. Journal of Clinical Immunology, 2020

941 citations recorded by the source corpus.

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 since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.

Subfields: Immunology, Pathology and Forensic Medicine, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/e05b9570c3ea69868e915406d0860811128d2ab3

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Citations in the corpus

The Human Phenotype Ontology in 2021 (2020, background): “For most other IEIs that are included in the genotypic classification of the International Union of Immunological Societies (36), complete HPO term annotations are still lacking.”
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee (2022, methodology): “GOF [52] variants which complement previous reports of AR RIPK1 deficiency, AD GOF TMEM173/STING, AD TBK1 deficiency, and mono-allelic IKZF1 inactivating variants, respectively [5].”
The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms (2022, background): “Primary immunodeficiencies, associated with germline mutations, have been renamed “inborn errors of immunity” (IEI) by the International Union of Immunological Societies, a terminology adopted by WHO-HAEM5 [170].”