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Supplementary Material 1

Additional file 2. Summaries of patients��� clinical history.

Additional file 2. Summaries of patients��� clinical history.

Additional file 1. Details of immunologic findings.

Background: Common variable immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency (PID) disorder characterized by variable clinical manifestations including recurrent infections, autoimmune disorders, enteropathy, lymphoproliferative disorders, and malignancy. The aim of this study is to estimate the overall prevalence of malignancy in patients with CVID. Methods: PubMed, Web of Science and Scopus were searched systemically to find eligible studies from the earliest available date to March 2019 with standard keywords. Pooled estimates of the malignancy prevalence and the corresponding 95% confidence intervals (CI) were calculated using random effects models. Results: Forty-eight studies with a total of 8123 CVID patients met the inclusion criteria and were finally included in the meta-analysis. Overall prevalence of malignancy was 8.6% (95% CI: 7.1–10.0; I2 = 79.2%). The prevalence of lymphoma, gastric cancer, and breast cancer in CVID patients were 4.1% (95% CI: 3.3–4.9; I2 = 62.6%), 1.5% (95% CI: 0.78–2.2; I2 = 68.9%), and 1.3% (95% CI: 0.64–1.9; I2 = 54.9%), respectively. Moreover, autoimmunity and malabsorption were more frequent in patients with malignancy than those without malignancy. Conclusion: The prevalence of malignancy has increased in CVID patients due to recent improvement in survival rate and the lymphoma is the most common type. This research highlighted the significance of malignancy screening and management in CVID patients.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the AIRE (autoimmune regulator) gene. Patients with APECED present with heterogeneous endocrine and non-endocrine manifestations. In this study, we report an Iranian patient who presented with Addison disease, chronic mucocutaneous candidiasis, alopecia totalis, keratopathy and asplenia treated as an isolated endocrinopathy for 25 years. In the adulthood, the diagnosis of APECED was made by genetic analysis which demonstrated homozygous nonsense p.R257* (c.769C>T) mutation of AIRE. APECED has been shown to be frequent in some ethnicities including Iranian Jews. Therefore, we reviewed 39 Iranian APECED patients published in the literature. We found that most of the Iranian patients were of Jewish ethnic background and presented hypoparathyroidism, adrenal insufficiency, and candidiasis as the main clinical manifestation.