Biblio
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. J Clin Immunol. 2020.
. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature. 2023.
Autologous hematopoietic stem cell transplantation in Clarkson disease. J Allergy Clin Immunol Pract. 2022.
. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018.
Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J Allergy Clin Immunol. 2020.
Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort. J Allergy Clin Immunol Pract. 2021.
. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report. J Clin Immunol. 2024;44(4):86.
Jakinibs for the Treatment of Immunodysregulation in Patients with Gain of Function STAT1 or STAT3 Mutations. J Allergy Clin Immunol. 2018.
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.