| Measure | Fraction | Interpretation |
|---|---:|---|
| Moderate-to-severe neutropenia | 7/7 (100%) | Present in every child at diagnosis |
| Anemia | 6/7 (86%) | Five normocytic and one macrocytic case |
| Platelet-transfusion requirement | 3/7 (43%) | Indicates clinically significant thrombocytopenia |
| Any immunodeficiency | 6/7 (86%) | Variable clinical and laboratory immune impairment |
| Hypogammaglobulinemia | 5/7 (71%) | Most frequent specified immune abnormality |
| Combined B- and NK-cell deficiency | 4/7 (57%) | Reported jointly; not evidence that each deficiency independently occurred in 4/7 |
| Spontaneous hematologic remission with monosomy-7 regression | 3/7 (43%) | Recovery occurred during close surveillance |
| Somatic *SAMD9L* subclones in cis | 5/7 (71%) | Putative genetic-rescue clones; presence did not reliably predict remission |
| Allogeneic HSCT | 4/7 (57%) | Performed for progression, persistent monosomy 7, severe neutropenia/infection, or a serious inflammatory complication |
| Progression to MDS with excess blasts | 1/7 (14%) | Occurred with acquired oncogenic evolution |
| Transplant-related death | 1/7 (14%) | Death followed HSCT rather than spontaneous disease progression |
| **Interpretive limitation** | **Selected cohort, n=7** | Children aged <5 years were selected for germline *SAMD9L* disease, monosomy 7, and normal marrow blast percentage; fractions are **not population prevalence or penetrance estimates** (pqac-00000028, pqac-00000029, pqac-00000045) |


*Table: Clinical findings and outcomes in the selected seven-child SAMD9L-plus-monosomy-7 cohort reported by Erlacher et al., DOI: https://doi.org/10.3324/haematol.2023.283591 (online August 17, 2023; print February 2024). These fractions characterize this narrowly selected cohort and are not population-level estimates.*