Research & Literature

Nutritional status in children with Shwachman-diamond syndrome.

Pichler J, Meyer R, Köglmeier J, et al.

Pancreas 2015; (44(4)):590-5 doi:10.1097/MPA.0000000000000291.

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Tummala H, Walne AJ, Williams M, et al.

American journal of human genetics 2016; (99(1)):115-24.

Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.

Valli R, De Paoli E, Nacci L, et al.

Pediatric blood & cancer 2017; (64(8)) doi:10.1002/pbc.26454.

Bone mineral density in patients with inherited bone marrow failure syndromes.

Shankar RK, Giri N, Lodish MB, et al.

Pediatric research 2017; (82(3)):458-464 doi:10.1038/pr.2017.117.

How I treat myelodysplastic syndromes of childhood.

Locatelli F, Strahm B

Blood 2018; (131(13)):1406-1414 doi:10.1182/blood-2017-09-765214.

Outpatient Management of Fever and Neutropenia in Adults Treated for Malignancy: American Society of Clinical Oncology and Infectious Diseases Society of America Clinical Practice Guideline Update.

Taplitz RA, Kennedy EB, Bow EJ, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018; (36(14)):1443-1453 doi:10.1200/JCO.2017.77.6211.

Refining the phenotype associated with biallelic DNAJC21 mutations.

D'Amours G, Lopes F, Gauthier J, et al.

Clinical genetics 2018; (94(2)):252-258 doi:10.1111/cge.13370.

Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan.

Ikuse T, Kudo T, Arai K, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2018; (60(8)):719-726 doi:10.1111/ped.13601.

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.

Cipolli M, Tridello G, Micheletto A, et al.

BMJ open 2019; (9(1)):e022617 doi:10.1136/bmjopen-2018-022617.

Serum biomarkers for sepsis in children with febrile neutropenia and cancer.

Ruggiero A, Pocino K, Catalano M, et al.

Journal of biological regulators and homeostatic agents 2019; (33(3)):999-1003.

Monitoring and treatment of MDS in genetically susceptible persons.

Davies SM

Hematology. American Society of Hematology. Education Program 2019; (2019(1)):105-109 doi:10.1182/hematology.2019000020.

Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.

Myers KC, Furutani E, Weller E, et al.

The Lancet. Haematology 2020; (7(3)):e238-e246 doi:10.1016/S2352-3026(19)30206-6.

A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.

Cesaro S, Pegoraro A, Sainati L, et al.

The Journal of pediatrics 2020; (219()):196-201.e1 doi:10.1016/j.jpeds.2019.12.041.

Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome.

Myers K, Hebert K, Antin J, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2020; (26(8)):1446-1451 doi:10.1016/j.bbmt.2020.04.029.

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.

Bezzerri V, Api M, Allegri M, et al.

International journal of molecular sciences 2020; (21(13)) doi:10.3390/ijms21134672.

Clonal hematopoiesis in the inherited bone marrow failure syndromes.

Tsai FD, Lindsley RC

Blood 2020; (136(14)):1615-1622 doi:10.1182/blood.2019000990.

Endocrine dysfunction in children with Shwachman-Diamond syndrome.

Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, et al.

Endokrynologia Polska 2021; (72(3)):211-216 doi:10.5603/EP.a2021.0014.

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Kennedy AL, Myers KC, Bowman J, et al.

Nature communications 2021; (12(1)):1334 doi:10.1038/s41467-021-21588-4.

Growth hormone improves short stature in children with Shwachman-Diamond syndrome.

Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, et al.

Pediatric endocrinology, diabetes, and metabolism 2021; (27(2)):87-92 doi:10.5114/pedm.2021.105298.

Somatic genetic rescue of a germline ribosome assembly defect.

Tan S, Kermasson L, Hilcenko C, et al.

Nature communications 2021; (12(1)):5044 doi:10.1038/s41467-021-24999-5.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

Khan AW, Kennedy A, Furutani E, et al.

Molecular cytogenetics 2021; (14(1)):54 doi:10.1186/s13039-021-00575-w.

Fludarabine-based Reduced Intensity Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in a Pediatric Patient With Bone Marrow Failure Syndrome Type 3.

Barhoom D, Mohseni R, Behfar M, Hamidieh AA

Journal of pediatric hematology/oncology 2022; (44(8)):e1050-e1052 doi:10.1097/MPH.0000000000002374.

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS, Giri N, Gianferante DM, et al.

Pediatric research 2022; (92(6)):1671-1680 doi:10.1038/s41390-022-02009-8.

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis.

Chirita-Emandi A, Petrescu CA, Zimbru CG, et al.

Frontiers in genetics 2022; (13()):870233 doi:10.3389/fgene.2022.870233.

Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party.

Cesaro S, Donadieu J, Cipolli M, et al.

Transplantation and cellular therapy 2022; (28(10)):637-649 doi:10.1016/j.jtct.2022.07.010.

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.

Reilly CR, Shimamura A

Blood 2023; (141(13)):1513-1523 doi:10.1182/blood.2022017739.

Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge.

Marsico C, Scozzarella A, Capretti MG, et al.

JPGN reports 2022; (3(1)):e165 doi:10.1097/PG9.0000000000000165.

DNAJC21-related thrombocytopenia in a young adult female.

Aslan D, Akgun-Dogan O, Ay B, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2023; (193(2)):193-197 doi:10.1002/ajmg.c.32043.

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.

Kawashima N, Oyarbide U, Cipolli M, et al.

Haematologica 2023; (108(10)):2594-2605 doi:10.3324/haematol.2023.282949.

A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting.

Pallavelangini S, Senguttuvan G, Bhatia P, et al.

The Journal of molecular diagnostics : JMD 2023; (25(10)):748-757 doi:10.1016/j.jmoldx.2023.06.009.

Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist.

Li J, Bledsoe JR

Seminars in diagnostic pathology 2023; (40(6)):429-442 doi:10.1053/j.semdp.2023.06.006.

Convergent somatic evolution commences in utero in a germline ribosomopathy.

Machado HE, Øbro NF, Williams N, et al.

Nature communications 2023; (14(1)):5092 doi:10.1038/s41467-023-40896-5.

Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.

He M, Lian G, Hu H, et al.

The Turkish journal of pediatrics 2023; (65(5)):845-852.

Exocrine Pancreatic Insufficiency in Children - Challenges in Management.

Sankararaman S, Schindler T

Pediatric health, medicine and therapeutics 2023; (14()):361-378 doi:10.2147/PHMT.S402589.

Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?

Hudda Z, Myers KC

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):141-148 doi:10.1182/hematology.2023000471.

Clonal evolution in inherited marrow failure syndromes predicts disease progression.

Schratz KE

Hematology. American Society of Hematology. Education Program 2023; (2023(1)):125-134 doi:10.1182/hematology.2023000469.

A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.

Durmaz D, Aslanger AD, Yavas Abali Z, et al.

Journal of pediatric hematology/oncology 2024; (46(3)):e214-e219 doi:10.1097/MPH.0000000000002839.

A naturally occurring canine model of syndromic congenital microphthalmia.

Murgiano L, Banjeree E, O'Connor C, et al.

G3 (Bethesda, Md.) 2024; (14(6)) doi:10.1093/g3journal/jkae067.

Emerging genetic technologies informing personalized medicine in Shwachman-Diamond syndrome and other inherited BMF disorders.

Cull AH, Kent DG, Warren AJ

Blood 2024; (144(9)):931-939 doi:10.1182/blood.2023019986.

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.

Veltra D, Marinakis NM, Kotsios I, et al.

Children (Basel, Switzerland) 2024; (11(6)) doi:10.3390/children11060705.

Outcomes of allogeneic hematopoietic stem cell transplantation in Shwachman-Diamond syndrome: a systematic review and meta-analysis.

Ma C, Huang X, Chen Y, et al.

Cytotherapy 2025; (27(4)):465-474 doi:10.1016/j.jcyt.2024.12.004.

Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.

Palla S, Bhatia P, Raina S, et al.

Blood cells, molecules & diseases 2025; (113-114()):102924 doi:10.1016/j.bcmd.2025.102924.

Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.

Schwarz L, Cheng L, Steltz S, et al.

The Journal of pediatrics 2025; (287()):114780 doi:10.1016/j.jpeds.2025.114780.

Neutropenia: Evaluation and Management in the Primary Care Setting.

Kim MJ, Forlini C, Kremsreiter K

American family physician 2025; (112(6)):618-628.

Liver disease in Shwachman-Diamond syndrome: A comprehensive characterization across the age spectrum.

Koo J, Schwarz D, Haney M, et al.

Journal of pediatric gastroenterology and nutrition 2026; (82(6)):1357-1365 doi:10.1002/jpn3.70430.

Liver stiffness in patients with Shwachman-Diamond syndrome.

Sabharwal S, Grover A, Mitchell P, et al.

JPGN reports 2026; (7(2)):200-206 doi:10.1002/jpr3.70138.

Beyond neutropenia: Immunological evaluation of patients with Shwachman-Diamond syndrome.

Gloude NJ, Brundige K, Loveless S, et al.

British journal of haematology 2026; (209(1)):180-188 doi:10.1111/bjh.70553.

Genetic variant profile in a cohort of inherited bone marrow failure patients from North india.

Viswanathan GK, Dass J, Chauhan R, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2026; (42(5)):1873-1880 doi:10.1007/s12288-025-02243-0.

Schwachman Diamond-Like Syndrome Due to a Novel Variant of DNAJC21 Gene: A Case Report and Literature Review.

Maaloul I, Hachicha J, Achich Y, et al.

Journal of pediatric hematology/oncology 2026; doi:10.1097/MPH.0000000000003309.

Outcomes and challenges of stem cell transplantation in patients with ribosomopathies.

Pierri F, Dufour C

Seminars in hematology 2026; doi:10.1053/j.seminhematol.2026.09.009.