Exome and genome sequencing for inborn errors of immunity
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine,
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery …
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery …
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical
COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in …
COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in …
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 …
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 …
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo… - Science …, 2021 - science.org
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines
underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare …
underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare …
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
N Hernandez, I Melki, H Jing, T Habib… - Journal of Experimental …, 2018 - rupress.org
Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …
immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is …
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12–and IL-23–dependent IFN-γ
immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 …
immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 …
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency
have been diagnosed over the last 20 years. They typically suffer from invasive …
have been diagnosed over the last 20 years. They typically suffer from invasive …
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3)
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper …
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper …