Background: Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-function mutations in swi/snf-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1). Methods: Analysis of detailed autopsies to correlate clinical and pathological findings in two men severely affected with SIOD. Results: As predicted by the clinical course, T cell deficiency in peripheral lymphoid organs, defective chondrogenesis, focal segmental glomerulosclerosis, cerebral ischaemic lesions and premature atherosclerosis were identified. Clinically unexpected findings included a paucity of B cells in the peripheral lymphoid organs, emperipolesis-like (penetration of one cell by another) abnormalities in the adenohypophysis, fatty infiltration of the cardiac right ventricular wall, pulmonary emphysema, testicular hypoplasia with atrophy and azospermia, and clustering of small cerebral vessels. Conclusions: A regulatory role for the SMARCAL1 protein in the proliferation of chondrocytes, lymphocytes and spermatozoa, as well as in the development or maintenance of cardiomyocytes and in vascular homoeostasis, is suggested. Additional clinical management guidelines are recommended as this study has shown that patients with SIOD may be at risk of pulmonary hypertension, combined immunodeficiency, subcortical ischaemic dementia and cardiac dysfunction.

Wright-Giemsa staining is a common procedure that is performed routinely in hematology laboratories. Consistency in intra-laboratory staining quality is essential for accurate morphological interpretation of blood smears. Although the Wright-Giemsa stain can be challenging to perform, the methods illustrated here have provided consistent, high quality stains in the Special Hematology Laboratory at the University of Minnesota for over half a century. We outline methods for collecting blood specimens, preparing the slides and performing a Wright-Giemsa stain using our combination of reagents. Various techniques that have been passed down in our laboratory for troubleshooting suboptimally stained specimens are shared as well.