Shwachman-Diamond syndrome associated with autoimmune phenomena

Shimon Reif, Ravit Arav-Boger, Shmuel Diamant, Yoav Burstein, Aviva Fatal

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


A 2-year-old boy was evaluated for failure to thrive, hypotonia and developmental delay. The child exhibited all the criteria of Shwachman- Diamond syndrome, i.e., short stature, metaphyseal dysostosis, pancreatic insufficiency and neutropenia. Liver function tests were abnormal. Marked edema together with pericardial effusion appeared during the period of follow-up. Hypothyroidism attributed to autoimmune thyroiditis was diagnosed, and other autoantibodies were detected as well. We suggest that all autoimmune baseline profile and follow-up should be part of the work-up and management of patients with Shwachman-Diamond syndrome. Moreover, the finding of autoantibodies might offer a new insight towards understanding the pathogenesis of this condition.

Original languageEnglish (US)
Pages (from-to)259-265
Number of pages7
JournalJournal of Medicine
Issue number3-4
StatePublished - 1999
Externally publishedYes


  • Autoimmune hypothyroidism
  • Hepatomegaly
  • Pancreatic insufficiency
  • Shwachman-Diamond syndrome

ASJC Scopus subject areas

  • General Medicine


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