Last Updated: 09/26/2026
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Found 28 publications
Angiotensin Type 1 Receptor Antibody Positivity in a Pediatric Liver Transplant Patient With Antibody-Mediated Rejection: A Case Report.
Journal: Pediatric transplantation
Published: March 31, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.
Journal: American journal of human genetics
Published: October 13, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.
Journal: Journal of clinical immunology
Published: June 26, 2024
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Journal: Journal of medical genetics
Published: December 27, 2022
Atypical infiltrates on endomyocardial biopsy are associated with adverse outcomes in pediatric heart transplantation.
Journal: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
Published: December 19, 2022
Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation.
Journal: The Pediatric infectious disease journal
Published: January 24, 2022
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
Journal: The Journal of experimental medicine
Published: August 13, 2020
Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation.
Journal: JPGN reports
Published: August 02, 2020
Last Updated: 09/26/2026