Luigi Daniele Notarangelo

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

Lymphopenia drives T cell exhaustion in immunodeficient STING gain-of-function mice

This study identifies T cell exhaustion in STING GOF mice as driven by lymphopenia, independent of type I interferons and intrinsic STING activation.

A novel frameshift mutation in Phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) causes immunodeficiency and Amyotrophic Lateral Sclerosis (ALS)

The paper identifies a novel PIK3R1 frameshift mutation linked to immunodeficiency and ALS, showing haploinsufficiency causes neuronal dysfunction and apoptosis.

Embryonic lymphocytes contribute to a genetic form of autoimmune inflammation

This study shows that embryonic-like progenitors contribute to autoreactive T-cells in Omenn Syndrome, leading to autoimmune inflammation.

ImmunoTyper-SR: A Novel Computational Approach for Genotyping Immunoglobulin Heavy Chain Variable Genes using Short Read Data

ImmunoTyper-SR genotypes IGHV alleles from short read data and identifies associations between IGHV alleles and anti-type I IFN autoantibodies in COVID-19 patients.