Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype

Shwachman–Diamond syndrome (SDS) is an autosomal recessive multisystem disorder characterized by exocrine pancreatic dysfunction, bone marrow failure, and leukemia predisposition. Approximately 90% of cases are due to biallelic mutations in the Shwachman–Bodian–Diamond (SBDS) gene. Additional phenot...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2020-07, Vol.182 (7), p.1754-1760
Main Authors: Furutani, Elissa, Shah, Ankoor S., Zhao, Yongdong, Andorsky, David, Dedeoglu, Fatma, Geddis, Amy, Zhou, Yu, Libermann, Towia A., Myers, Kasiani C., Shimamura, Akiko
Format: Article
Language:English
Subjects:
Adolescent
Adult
Arthritis
autoimmune
Autoimmune Diseases - diagnosis
Autoimmune Diseases - genetics
Autoimmune Diseases - pathology
Bone marrow
Bone Marrow Diseases - diagnosis
Bone Marrow Diseases - genetics
Child
Child, Preschool
Endocrine System - pathology
Female
Hereditary diseases
Humans
inflammation
Inflammation - diagnosis
Inflammation - genetics
Inflammation - pathology
Inflammatory diseases
Lipomatosis - diagnosis
Lipomatosis - genetics
Lipomatosis - pathology
Male
Mutation - genetics
neutropenia
Osteomyelitis
Pancreas
Patients
Phenotype
Phenotypes
Proteins - genetics
Proteomics
Scleroderma
Shwachman-Diamond Syndrome - diagnosis
Shwachman-Diamond Syndrome - genetics
Shwachman-Diamond Syndrome - pathology
Shwachman–Diamond syndrome
Young Adult
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Description
Summary:Shwachman–Diamond syndrome (SDS) is an autosomal recessive multisystem disorder characterized by exocrine pancreatic dysfunction, bone marrow failure, and leukemia predisposition. Approximately 90% of cases are due to biallelic mutations in the Shwachman–Bodian–Diamond (SBDS) gene. Additional phenotypic features variably associated with SDS include skeletal, neurologic, hepatic, cardiac, endocrine, and dental abnormalities. We report five subjects with SDS who developed a range of inflammatory manifestations. Three patients developed inflammatory eye conditions. Single cases of juvenile idiopathic arthritis, chronic recurrent multifocal osteomyelitis, and scleroderma were also noted. Clinical presentation and treatment responses are described. Proteomic analysis revealed increased inflammatory signatures in SDS subjects as compared to controls. Treatment of inflammatory manifestations in patients with SDS may be complicated by potential myelosuppressive toxicities of anti‐rheumatic medications. Further research is needed to better understand the potential link between inflammatory disorders and SDS to inform effective treatment strategies.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61593