2004
DOI: 10.1002/cm.10164
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The chemotaxis defect of Shwachman‐Diamond Syndrome leukocytes

Abstract: Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive, multisystem disorder presenting in childhood with intermittent neutropenia and pancreatic insufficiency. It is characterized by recurrent infections independent of neutropenia, suggesting a functional neutrophil defect. While mutations at a single gene locus (SBDS) appear to be responsible for SDS in a majority of patients, the function of that gene and a specific defect in SDS neutrophil behavior have not been elucidated. Therefore, employing 2D … Show more

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Cited by 69 publications
(63 citation statements)
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“…Based upon these clinical findings she was given the diagnosis of SDS at 12 months of age, which was later confirmed following identification of a mutation in the SBDS gene. The neutropenia persisted with ANCs ranging from 50 to 500/mm 3 . She had multiple infections throughout the first 7 years of life.…”
Section: Methodsmentioning
confidence: 99%
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“…Based upon these clinical findings she was given the diagnosis of SDS at 12 months of age, which was later confirmed following identification of a mutation in the SBDS gene. The neutropenia persisted with ANCs ranging from 50 to 500/mm 3 . She had multiple infections throughout the first 7 years of life.…”
Section: Methodsmentioning
confidence: 99%
“…Owing to the ongoing neutropenia and recurrent life threatening infections the patient was referred for an allogeneic HSCT. At the time of transplant the patient was 15 months of age with the following complete blood count (CBC): hemoglobin 9.8 g/dl, MCV 89, platelets 109 000/mm 3 , WBC 10 600/mm 3 , ANC 212/mm 3 . The patient lacked an HLA identical family member and bone marrow registries failed to reveal any 6/6 HLA matched unrelated donors.…”
Section: Methodsmentioning
confidence: 99%
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“…Neutropenia occurs in 88 to 98% of patients and has been identified as early as the neonatal period (1,10). Patients are susceptible to recurrent infections, and adding to this risk have been indications of impaired neutrophil chemotactic functions (2,9,31). Bone marrow biopsy usually reveals varying degrees of hypoplasia and fat infiltration.…”
mentioning
confidence: 99%