16 UBA1

Hereditary Hematologic Malignancies

Preface
1 Introduction
2 HHM Clinics at VUMC
3 ANKRD26
4 RUNX1
5 ETV6
6 CEBPA-Associated Familial Acute Myeloid Leukemia
7 GATA2 Deficiency
8 SAMD9_SAMD9L Syndromes
9 Germline Predisposition due to Alterations in RAS-MAPK Pathway
10 Down Syndrome
11 Bloom Syndrome
12 Telomere Biology Disorders
13 Fanconi Anemia
14 Ribosomopathies
15 Severe Congenital Neutropenia
16 UBA1
17 DDX41
18 POT1
19 MDM4 deficiency
20 Classical Phenotype-Genotype Causations
21 Summary
References

Table of contents

16.1 Germline UBA1 Variant With Somatic Amplification in a Woman With Inflammatory Diseases and Myelodysplastic Syndrome (Creignou et al. 2025)

16 UBA1

16.1 Germline UBA1 Variant With Somatic Amplification in a Woman With Inflammatory Diseases and Myelodysplastic Syndrome (Creignou et al. 2025)

Creignou, Maria, Maria Sirenko, Pedro L. Moura, et al. 2025. “Germline UBA1 Variant with Somatic Amplification in a Woman with Inflammatory Diseases and Myelodysplastic Syndrome.” Annals of Internal Medicine 178 (2): 300–304. https://doi.org/10.7326/l24-0125.

15 Severe Congenital Neutropenia