The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee
SG Tangye, W Al-Herz, A Bousfiha… - Journal of clinical …, 2021 - Springer
The most recent updated classification of inborn errors of immunity/primary
immunodeficiencies, compiled by the International Union of Immunological Societies Expert …
immunodeficiencies, compiled by the International Union of Immunological Societies Expert …
Human autoantibodies underlying infectious diseases
A Puel, P Bastard, J Bustamante… - Journal of Experimental …, 2022 - rupress.org
The vast interindividual clinical variability observed in any microbial infection—ranging from
silent infection to lethal disease—is increasingly being explained by human genetic and …
silent infection to lethal disease—is increasingly being explained by human genetic and …
Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee
SG Tangye, W Al-Herz, A Bousfiha… - Journal of clinical …, 2022 - Springer
We report the updated classification of inborn errors of immunity, compiled by the
International Union of Immunological Societies Expert Committee. This report documents the …
International Union of Immunological Societies Expert Committee. This report documents the …
Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria
Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …
susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less …
Human inborn errors of immunity: an expanding universe
Molecular, cellular, and clinical studies of human inborn errors of immunity have
revolutionized our understanding of their pathogenesis, considerably broadened their …
revolutionized our understanding of their pathogenesis, considerably broadened their …
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
The pathophysiology of adverse events following programmed cell death protein 1 (PD-1)
blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We …
blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We …
Aberrant type 1 immunity drives susceptibility to mucosal fungal infections
INTRODUCTION Studies of monogenic diseases have uncovered the importance of immune
pathways in human tissue-specific immunity and antimicrobial defense. In particular, human …
pathways in human tissue-specific immunity and antimicrobial defense. In particular, human …
Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria
Inborn errors of human interferon gamma (IFN-γ) immunity underlie mycobacterial disease.
We report a patient with mycobacterial disease due to inherited deficiency of the …
We report a patient with mycobacterial disease due to inherited deficiency of the …
Inherited IFNAR1 deficiency in a child with both critical COVID-19 pneumonia and multisystem inflammatory syndrome
H Abolhassani, N Landegren, P Bastard… - Journal of clinical …, 2022 - Springer
Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs)
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria
Human inherited disorders of interferon-gamma (IFN-γ) immunity underlie severe
mycobacterial diseases. We report X-linked recessive MCTS1 deficiency in men with …
mycobacterial diseases. We report X-linked recessive MCTS1 deficiency in men with …