Clinical pearlsDiagnosis of primary immunodeficiency: Let your eyes do the talking
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Case report
We present here the example of a 4-year-old girl whose initial presentation to medical attention was a result of repeated lower respiratory infections, short stature, failure to thrive (height, weight, and body mass index less than fifth percentile for age), and a chest deformity (Fig 1, A). The family history revealed no similar problems.
Skeletal survey and chest radiographs revealed generalized skeletal dysplasia with irregularity of the metaphyses along the cartilage plates of the proximal
Discussion
Shwachman-Bodian-Diamond syndrome is characterized by metaphyseal skeletal dysplasia, exocrine pancreatic insufficiency, and varying degrees of cytopenias, predominantly neutropenia. To date, the immune dysfunctions that have been reported include varying degrees of T-cell, B-cell, and NK-cell defects. The most widely reported deficits are3, 4 (1) neutropenia and inability of neutrophils to orient and migrate toward a chemoattractant gradient; (2) T-cell defects with decreased number of total
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Cited by (0)
Supported by the Primary Immune Deficiency Treatment Consortium (U54 AI082978) and the David Center at Texas Children's Hospital, Houston.
Disclosure of potential conflict of interest: C. Bacino has received research support from the National Institutes of Health and has provided legal consultation or expert witness testimony regarding brain injury causation and genetic etiologies. The remaining authors declare that they have no relevant conflicts of interest to disclose.