Highlights the importance of investigating recurrent autoimmune cytopenias for underlying genetic conditions like 22q11.2 deletion syndrome, even when classic clinical features are limited.
Alerts clinicians to 22q11.2 deletion syndrome in atypical recurrent cytopenias; hypothesis-generating and should not yet change practice.
We describe two cases of recurrent autoimmune cytopenias, which were subsequently diagnosed with a 22q11.2 deletion/DiGeorge syndrome. The cases are of particular interest as both possessed limited clinical features of this syndrome, and the investigation of haematological abnormalities led to the establishment of a definitive genetic diagnosis.
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Davies et al. (2003) studied this question.
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