Background and Aims

Primary immunodeficiencies (PIDs) are characterized by an increased risk of autoimmune diseases, especially autoimmune cytopenias. Among patients with CVID cytopenias are 100-to 1000-fold higher than in the general population. Idiopathic thrombocytopenic purpura (ITP) being the most frequent cytopenia, it prevalence is about 20%.

Methods

We present three cases of patients, whose predominant feature was a chronic and recurrent course of the ITP.

Results

Patient No 1: a 18-month- old girl had ITP and skin erythroderma from the neonatal period and frequent respiratory infections. Next generation sequencing (NGS) detected missense mutation RAG1 and diagnosed severe combined immunodeficiency (SCID). Now, the girl is 7 months after HSCT.

Patient No 2: a 4-year-old boy had ITP and enlarged spleen and very high triglyceride concentration. Finally, diagnosed chylomicron retention disease. He has symptomatic treatment.

Patient No 3: a 6-year-old-boy had ITP and agranulocytosis, fever, colitis, hepatosplenomegaly, tumour in mediastinum and multiple autoantibodies. He has missense mutation CTLA-4. Currently, the boy is 9 months after HSCT.

Conclusions

Idiopathic thrombocytopenic purpura, especially chronic and recurrent, requires the extension of diagnostics towards primary immunodeficiency. Improving awareness and early genetic diagnosis of primary immunodeficiency, such as SCID or CTLA-4 deficiency, is important for initiating correct treatment, improving clinical outcomes and quality of life of these patients.