Luis Alberto Pedroza

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Iván K. Chinn, Olive S. Eckstein, Erin C. Peckham‐Gregory et al. · Blood · 2018 · 199 citations · Full text

Medicine, Genetics, Pediatrics +14

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Manfred Fliegauf, Nils Klammer, Natalie Frede et al. · Journal of Allergy and Clinical Immunology · 2020 · 130 citations · Full text

Life Sciences, Genetics, Immunology +13

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING

Hiroyasu Konno, Iván K. Chinn, Diana N. Hong et al. · Cell Reports · 2018 · 112 citations · Full text

Life Sciences, Immunology, Molecular Biology +17

Monoallelic expression can govern penetrance of inborn errors of immunity

O’Jay Stewart, Conor Gruber, Haley E. Randolph et al. · Nature · 2025 · 72 citations · Full text

Life Sciences, Genetics, Immunology +14