Publications by authors named "Roshini Abraham"

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The complex relationship between inborn errors of immunity and autoimmunity.
Pui Y Lee, Roshini S Abraham

J Allergy Clin Immunol· December 2025

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A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Sophie Wolfgramm, Sara Alehashemi, Martin Wendlandt, Franziska G Thiel, Adriana A de Jesus, Roshini S Abraham

Ann Rheum Dis· November 2025

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Mondo: Integrating Disease Terminology Across Communities.
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R Mullen, Roshini S Abraham

Genetics· October 2025

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Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.
Jian Yue, Courtney E LeSon, Casey A Rimland, Kailey Brodeur, Rachel Weng, Roshini S Abraham

Arthritis Rheumatol· October 2025

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Factors associated with and kinetics of anti-IFN-α autoantibodies in deficiency.
Chen Wang, David Evan Potts, Bijun Sun, Marta Toth, Boglarka Ujhazi, Roshini S Abraham

J Allergy Clin Immunol Glob· August 2025

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The evolving landscape of human and clinical immunology: challenges and opportunities for The JI.
Gerald P Morris, Roshini S Abraham

J Immunol· July 2025

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Resolution of Squamous-Cell Carcinoma by Restoring T-Cell Receptor Signaling.
Peiying Ye, Jenna R E Bergerson, Isaac Brownell, Gabriel J Starrett, Roshini S Abraham

N Engl J Med· July 2025

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Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.
Alejandro Nieto-Patlán, Justyne Ross, Shruthi Mohan, Michelle K Paczosa, Rasha Soliman, Roshini S Abraham

J Allergy Clin Immunol· May 2025

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Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementation.
Lauren A Henderson, Roshini S Abraham, Aisha Ahmed, Lindsey Blount, Scott W Canna

Front Immunol· May 2025

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Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4 IL-9-expressing cells.
Geetha Rao, Corinne D Mack, Tina Nguyen, Natalie Wong, Kathryn Payne, Roshini S Abraham

J Allergy Clin Immunol· April 2025

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Relevance of Recent Thymic Emigrants Following Allogeneic Hematopoietic Cell Transplantation for Pediatric Patients with Inborn Errors of Immunity.
Daniel Drozdov, Xianghua Luo, Rebecca A Marsh, Roshini S Abraham, Christen L Ebens

Transplant Cell Ther· April 2025

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Expanding the diagnostic toolbox for complex genetic immune disorders.
Eric D Abrams, Amrita Basu, Megan E Zavorka Thomas, Sarah E Henrickson, Roshini S Abraham

J Allergy Clin Immunol· February 2025

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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Marita Bosticardo, Kerry Dobbs, Ottavia M Delmonte, Andrew J Martins, Francesca Pala, Roshini S Abraham

Sci Immunol· January 2025

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A pleiotropic recurrent dominant variant causes a complex multisystemic disease.
Anne Molitor, Alexandre Lederle, Mirjana Radosavljevic, Vinay Sapuru, Megan E Zavorka Thomas, Roshini S Abraham

Sci Adv· September 2024

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ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen.
Ashley Sang Eun Lee, Roshini S Abraham, Amrita Basu, Howard Lederman, Charlotte Cunningham-Rundles

Clin Immunol· August 2024

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PI3Kγ in B cells promotes antibody responses and generation of antibody-secreting cells.
Stephen M Lanahan, Lucas Yang, Kate M Jones, Zhihong Qi, Emylette Cruz Cabrera, Roshini S Abraham

Nat Immunol· August 2024

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Multisystem Inflammatory Syndrome in Children and Cardiac Involvement: A Quaternary Center Experience.
Diego Cruz Vidal, Simon Lee, Stacy P Ardoin, Djhenne Dalmacy, Juan Chaparro, Roshini S Abraham

Pediatr Infect Dis J· May 2024

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MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks.
Brendan Mathias, David O'Leary, Nermina Saucier, Faiz Ahmad, Lynn S White, Roshini S Abraham

J Allergy Clin Immunol· April 2024

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Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.
Roshini S Abraham, Amrita Basu, Jennifer R Heimall, Elizabeth Dunn, Alison Yip

Clin Immunol· April 2024

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COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
John McDonnell, Kimberley Cousins, M Elizabeth M Younger, Adam Lane, Hassan Abolhassani, Roshini S Abraham

J Clin Immunol· April 2024

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Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
Prabha Chandrasekaran, Yu Han, Christa S Zerbe, Theo Heller, Suk See DeRavin, Roshini S Abraham

J Allergy Clin Immunol· December 2023

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Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Tom Le Voyer, Audrey V Parent, Xian Liu, Axel Cederholm, Adrian Gervais, Roshini S Abraham

Nature· November 2023

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Abundant binary promoter switches in lineage-determining transcription factors indicate a digital component of cell fate determination.
Hongchuan Li, Md Ahasanur Rahman, Michael Ruesch, Caprice D Eisele, Erik M Anderson, Roshini S Abraham

Cell Rep· November 2023

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Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.
Amudha Pazhanisamy, Salomao Doria Jorge, Michael T Zimmermann, Maleewan Kitcharoensakkul, Manar Abdalgani, Roshini S Abraham

Clin Immunol· August 2023

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Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Pui Y Lee, Brad A Davidson, Roshini S Abraham, Blanche Alter, Juan I Arostegui

JAMA Netw Open· May 2023

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