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American Journal of Human Genetics|June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesMargot A Cousin, Erin Conboy, Jian-She Wang, et al.
The Journal of Allergy and Clinical Immunology|December 2, 2024
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cellsGeetha Rao, Corinne D Mack, Tina Nguyen, et al.
Frontiers in Immunology|January 10, 2022
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of ImmunityLudmila Perelygina, Raeesa Faisthalab, Emily Abernathy, et al.
The Journal of Clinical Investigation|March 28, 2017
Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiencyKit L Shaw, Elizabeth Garabedian, Suparna Mishra, et al.
JAMA Network Open|May 31, 2023
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus StatementPui Y Lee, Brad A Davidson, Roshini S Abraham, et al.
The Journal of Allergy and Clinical Immunology|September 27, 2020
Coronavirus disease 2019 in patients with inborn errors of immunity: An international studyIsabelle Meyts, Giorgia Bucciol, Isabella Quinti, et al.
Annals of the Rheumatic Diseases|November 18, 2025
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesisSophie Wolfgramm, Sara Alehashemi, Martin Wendlandt, et al.
The Journal of Allergy and Clinical Immunology. in Practice|March 13, 2026
ASSESSMENT OF TREC-BASED NBS SCID REPORTING PRACTICES FOR HARMONIZATION OF RESULTS AND INTERPRETATION: A GLOBAL SURVEYJahnavi Aluri, Amy Gaviglio, Isaac Kistler, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|October 28, 2025
Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 VariantsJian Yue, Courtney E LeSon, Casey A Rimland, et al.
Science Translational Medicine|April 28, 2017
Antimalarial efficacy of MMV390048, an inhibitor of Plasmodium phosphatidylinositol 4-kinaseTanya Paquet, Claire Le Manach, Diego González Cabrera, et al.
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