Research & Literature

Aplastic Anemia and MDS International Foundation (AAMDSIF): Bone marrow failure disease scientific symposium 2016.

Zeidan AM, Battiwalla M, Berlyne D, Winkler T

Leukemia research 2017; (53()):8-12 doi:10.1016/j.leukres.2016.11.011.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Tesi B, Davidsson J, Voss M, et al.

Blood 2017; (129(16)):2266-2279 doi:10.1182/blood-2016-10-743302.

Ataxia-pancytopenia syndrome with SAMD9L mutations.

Gorcenco S, Komulainen-Ebrahim J, Nordborg K, et al.

Neurology. Genetics 2017; (3(5)):e183 doi:10.1212/NXG.0000000000000183.

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB, Sahoo SS, Boklan J, et al.

Haematologica 2018; (103(3)):427-437 doi:10.3324/haematol.2017.180778.

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.

Wong JC, Bryant V, Lamprecht T, et al.

JCI insight 2018; (3(14)).

Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.

Ahmed IA, Farooqi MS, Vander Lugt MT, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019; (25(11)):2186-2196 doi:10.1016/j.bbmt.2019.07.007.

Acute cholecystitis in neutropenic patients.

Clemente-Gutiérrez U, Sánchez Morales GE, Moctezuma Velazquez P, et al.

Annals of hepato-biliary-pancreatic surgery 2019; (23(3)):234-239 doi:10.14701/ahbps.2019.23.3.234.

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.

de Jesus AA, Hou Y, Brooks S, et al.

The Journal of clinical investigation 2020; (130(4)):1669-1682.

Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.

Vaughan D, Bogdanova-Mihaylova P, Costello DJ, et al.

Journal of the peripheral nervous system : JPNS 2020; (25(4)):433-437 doi:10.1111/jns.12409.

Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Sahoo SS, Kozyra EJ, Wlodarski MW

Best practice & research. Clinical haematology 2020; (33(3)):101197 doi:10.1016/j.beha.2020.101197.

Revertant somatic mosaicism as a cause of cancer.

Inaba T, Nagamachi A

Cancer science 2021; (112(4)):1383-1389 doi:10.1111/cas.14852.

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.

Russell AJ, Gray PE, Ziegler JB, et al.

Proceedings of the National Academy of Sciences of the United States of America 2021; (118(34)) doi:10.1073/pnas.2110190118.

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.

Sahoo SS, Pastor VB, Goodings C, et al.

Nature medicine 2021; (27(10)):1806-1817 doi:10.1038/s41591-021-01511-6.

Structure and function of an effector domain in antiviral factors and tumor suppressors SAMD9 and SAMD9L.

Peng S, Meng X, Zhang F, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(4)) doi:10.1073/pnas.2116550119.

Successful Haploidentical Bone Marrow Transplantation of an Infant With a Novel Mutation in SAMD9L Gene (Ataxia-Pancytopenia Syndrome).

Alicea Marrero MM, Español M, Marrero-Rivera G, et al.

Journal of pediatric hematology/oncology 2022; (44(7)):419-420 doi:10.1097/MPH.0000000000002537.

Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice.

Abdelhamed S, Thomas ME, Westover T, et al.

The Journal of clinical investigation 2022; (132(21)).

A diffuse, pustular eruption in a neonate: Recognizing SAMD9L-associated autoinflammatory disease (SAAD).

Miller MM, Rowe G, O'Brien K, et al.

Pediatric dermatology 2024; (41(1)):112-114 doi:10.1111/pde.15411.

Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.

Erlacher M, Andresen F, Sukova M, et al.

Haematologica 2024; (109(2)):422-430 doi:10.3324/haematol.2023.283591.

Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.

Zingariello CD, Chen DH, Raskind WH, et al.

Movement disorders clinical practice 2024; (11(6)):728-733 doi:10.1002/mdc3.14038.

Of gains and losses: SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome.

Cammenga J

Experimental hematology 2024; (134()):104217 doi:10.1016/j.exphem.2024.104217.

SAMD9L acts as an antiviral factor against HIV-1 and primate lentiviruses by restricting viral and cellular translation.

Legrand A, Dahoui C, De La Myre Mory C, et al.

PLoS biology 2024; (22(7)):e3002696 doi:10.1371/journal.pbio.3002696.

Genetic and clinical spectrum of SAMD9 and SAMD9L syndromes: from variant interpretation to patient management.

Sahoo SS, Erlacher M, Wlodarski MW

Blood 2025; (145(5)):475-485 doi:10.1182/blood.2022017717.

Current infectious disease management challenges in inborn errors of immunity.

Zheng S, Lowe DM

Annals of clinical microbiology and antimicrobials 2025; (24(1)):60 doi:10.1186/s12941-025-00830-7.

[Advancing the development of hematology care units to enhance hematology‑specific critical care capacity].

Fan SJ, Li HT, Zhang X

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2025; (46(11)):985-990 doi:10.3760/cma.j.cn121090-20250922-00432.

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Elbaz Younes I, Nguyen L, Zhang L

Cancers 2026; (18(2)) doi:10.3390/cancers18020240.

From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.

Dellal H, Klifa R, Larcher L, et al.

British journal of haematology 2026; (209(1)):75-83 doi:10.1111/bjh.70563.