P376: The utility of deep phenotyping in elucidating a mechanism in a unique case of autoimmune cytopenia

Genetics in Medicine Open 2026 Open access

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Authors: Julia Grafstein, Danica Novacic, Colleen Evans Howe, Kan Jiang, Zuoming Deng, Gustaf Wigerblad, William Allen Gahl
DOI: 10.1016/j.gimo.2026.103870
Cited by: 0

Abstract

Several patients have presented to the NIH Undiagnosed Diseases Program with nonspecific bone marrow findings. We are using single-cell RNA sequencing to: 1) Determine if there are dysregulated or mis-expressed genes in aberrant cell populations in these patients; 2) Investigate specific variants that have been identified by prior sequencing.

Fields of Study & Subjects

Hematological disorders and diagnostics Blood groups and transfusion Blood disorders and treatments

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103870–103870
Publication date
1 January 2026
Language
EN