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Although common variable immunodeficiency (CVID) is sometimes associated with sarcoidosis/granulomatous disease, there have only been isolated reports of selective immunoglobulin A (IgA) deficiency and granulomatous disease. We present a patient with IgA deficiency who developed Heerfordt syndrome, a variant of neurosarcoidosis. This specific entity has not been previously reported to occur in IgA deficiency. Our case expands the reported associations of IgA deficiency and provides another example to the paucity of reported cases of sarcoidosis occurring in patients with IgA deficiency. As CVID and IgA deficiency have common underlying genetic factors, such an association is biologically plausible.

Aim: To review the clinical features of dermatomyositis (DM) in a South Australian population. Methods: Retrospective review of medical records of patients with biopsy-proven DM in South Australia from 1990 to 2005. Results: There were 21 cases of biopsy-proven DM in SA (62% F, mean age 49.7 ± 18.4 years) and clinical details were available in 20 of these. Malignancy was identified in 9/20 patients; in five this followed the diagnosis of DM, with three malignancies seen within 3 months of disease onset. Three patients had a clearly defined immune insult prior to the diagnosis of DM; one patient had Mycoplasma pneumoniae infection 23 days prior to DM, two had pneumococcal and influenza vaccinations 5 and 14 days prior to the onset of DM, respectively. Two of three patients with anti-Jo-1 antibody experienced thromboembolism within 2 months of DM onset and three patients had interstitial lung disease (2 with anti-Jo-1 antibody). Creatine kinase (CK) was elevated in 15/20 cases and showed strong correlation with transaminases, and notably not with traditional inflammatory markers. Conclusions: This retrospective review of patients with biopsy-proven DM suggests a role for infection/vaccination in triggering disease onset. A particularly strong association with malignancy was observed and it is suggested that DM may predispose to thrombosis. Transaminases, in addition to CK may be used to monitor disease activity, and traditional inflammatory markers have little role in this.

The SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) is a rare clinical entity in which osteosclerosis and osteolysis are consistent radiological findings. We present a patient with SAPHO syndrome manifesting as painful sternoclavicular hyperostosis treated successfully with pamidronate. For the first time, a reduction in isotope bone scan activity was documented in parallel to a favourable clinical response. Bisphosphonates have potent antiosteoclastic and anti-inflammatory effects. By virtue of their dual effects on bone remodelling and inflammation, they seem an appropriate therapy in the management of SAPHO syndrome. This case demonstrates the efficacy of pamidronate, both clinically and radiologically, as first line therapy for patients with isolated hyperostosis.