Current genetic landscape in common variable immune deficiency

H Abolhassani, L Hammarström… - Blood, The Journal …, 2020 - ashpublications.org
Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235
common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai …

Computational approaches for predicting variant impact: An overview from resources, principles to applications

Y Liu, WSB Yeung, PCN Chiu, D Cao - Frontiers in genetics, 2022 - frontiersin.org
One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

M Ogishi, R Yang, C Aytekin, D Langlais, M Bourgey… - Nature medicine, 2021 - nature.com
The pathophysiology of adverse events following programmed cell death protein 1 (PD-1)
blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We …

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

G Butler-Laporte, G Povysil, JA Kosmicki… - PLoS …, 2022 - journals.plos.org
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host
Genetics Initiative genome-wide association study used common variants to identify multiple …

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

SB Drutman, F Haerynck, FL Zhong… - Proceedings of the …, 2019 - National Acad Sciences
Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating
childhood disease that presents with recurrent growth of papillomas in the upper airway …

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

M Ogishi, R Yang, R Rodriguez, DP Golec… - Journal of Experimental …, 2022 - rupress.org
Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from
two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK …

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

C Sevim Bayrak, P Zhang, M Tristani-Firouzi, BD Gelb… - Genome medicine, 2020 - Springer
Background Congenital heart disease (CHD) affects~ 1% of live births and is the most
common birth defect. Although the genetic contribution to the CHD has been long …

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

J Rosain, AL Neehus, J Manry, R Yang, J Le Pen… - Cell, 2023 - cell.com
Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial
diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral …

Children's rare disease cohorts: an integrative research and clinical genomics initiative

S Rockowitz, N LeCompte, M Carmack… - NPJ genomic …, 2020 - nature.com
While genomic data is frequently collected under distinct research protocols and disparate
clinical and research regimes, there is a benefit in streamlining sequencing strategies to …

Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents

R Lévy, D Langlais, V Béziat… - The Journal of …, 2021 - Am Soc Clin Investig
We studied a child with severe viral, bacterial, fungal, and parasitic diseases, who was
homozygous for a loss-of-function mutation of REL, encoding c-Rel, which is selectively …