ArticleBlood advances2022
Hematologic complications with age in Shwachman-Diamond syndrome.
Article in Blood advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- A Case Report of Shwachman-Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review.Molecular genetics & genomic medicine · 2026Pooled it
- Beyond neutropenia: Immunological evaluation of patients with Shwachman-Diamond syndrome.British journal of haematology · 2026Article
- Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2025Review
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor.Haematologica · 2025Article
- Article
- Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report.World journal of hepatology · 2025Article
- Article
- Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.The Journal of clinical investigation · 2025Article
- Constitutive systemic inflammation in Shwachman-Diamond Syndrome.Molecular medicine (Cambridge, Mass.) · 2025Article
- Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.Frontiers in genetics · 2025Article
- Article
- A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome.Pediatric blood & cancer · 2024Article
- Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.Children (Basel, Switzerland) · 2024Review
- Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- Clonal evolution in inherited marrow failure syndromes predicts disease progression.Hematology. American Society of Hematology. Education Program · 2023Review
- Pediatric Bone Marrow Failure: A Broad Landscape in Need of Personalized Management.Journal of clinical medicine · 2023Review
- Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.Annals of laboratory medicine · 2023Article
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Authors and funding
25 authors at 12 institutions in 1 country.
Funding
Abstract
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with leukemia predisposition. An understanding of the hematologic complications of SDS with age could guide clinical management, but data are limited for this rare disease. We conducted a cohort study of 153 subjects from 143 families with confirmed biallelic SBDS mutations enrolled on the North American Shwachman Diamond Registry or Bone Marrow Failure Registry. The SBDS c.258 + 2T>C variant was present in all but 1 patient. To evaluate the association between blood counts and age, 2146 blood counts were analyzed for 119 subjects. Absolute neutrophil counts were positively associated with age (P < .0001). Hemoglobin was also positively associated with age up to 18 years (P < .0001), but the association was negative thereafter (P = .0079). Platelet counts and marrow cellularity were negatively associated with age (P < .0001). Marrow cellularity did not correlate with blood counts. Severe marrow failure necessitating transplant developed in 8 subjects at a median age of 1.7 years (range, 0.4-39.5), with 7 of 8 requiring transplant prior to age 8 years. Twenty-six subjects (17%) developed a myeloid malignancy (16 myelodysplasia and 10 acute myeloid leukemia) at a median age of 12.3 years (range, 0.5-45.0) and 28.4 years (range, 14.4-47.3), respectively. A lymphoid malignancy developed in 1 patient at the age of 16.9 years. Hematologic complications were the major cause of mortality (17/20 deaths; 85%). These data inform surveillance of hematologic complications in SDS.
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