Compound heterozygous mutations in GTF3A, encoding transcription factor IIIA, are identified in a patient with CID presenting with profound T-cell lymphopenia, diminished thymic output, and humoral failure, establishing deficiency of GTF3A resulting in combined immunodeficiency (DoGCID) within the spectrum of ribosomopathies.
This study confirmed the pathogenicity of the Y139C heterozygous mutation, providing supporting evidence for CTLA-4 haploinsufficiency and revealed that compensatory mechanisms arise in response to compromised trans-endocytosis.
DNA ligase IV (LIG4) is essential for DNA double-strand break (DSB) repair. Hypomorphic LIG4 variants cause LIG4 syndrome, characterized by growth disturbance, increased radiosensitivity, predisposition to malignancies, adaptive immunodeficiency and inflammatory conditions. Most of these manifestations are recapitulate...
It is demonstrated that SLF2 and SMC5 dysfunction drives premature HSC aging, bone marrow failure, and predisposition to MDS, revealing Atelis Syndrome as a previously unrecognized IBMFS.
Sho Shibata, K. Chonabayashi, Hirofumi Nakamura et al.· Leukemia· 1 citation
This study provides direct evidence that VEXAS-specific TE govern HSC clonal dominance, thereby uncovering a regulatory axis underlying HSC biology and disease mechanisms, opening a therapeutic strategy directed towards the repetitive genome.
A. Varesi, Sontago Dong, Chiara Gaddoni et al.· bioRxiv· 0 citations
This work extensively characterized a CRISPR-engineered human hematopoietic stem and progenitor cell model of ASXL1 mutations, and is the first to functionally describe the mutant ASXL1 interactome in the context of human HSCs, identifying MECOM and BRD4 as actionable dependencies with therapeutic potential for ASXL1-m...
Madison L. Hall, Aliya Quintal, Sonia N. Acharya et al.· Blood· 0 citations
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