Paediatric-onset haploinsufficiency of A20 associated with a novel and de novo nonsense TNFAIP3 mutation

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DEAR EDITOR, Haploinsufficiency of A20 (HA20) is a recently described autoinflammatory disease caused by loss-of-function of the A20 protein owing to mutations in the TNFAIP3 gene and shows autosomal dominant transmission [1]. Here, we report a sporadic case of paediatric-onset HA20 associated with a novel and de novo nonsense TNFAIP3 mutation. A 3-year-old girl (proband) had been experiencing recurrent and self-limited events of high fever (38.0°C–40.0°C) lasting for 3–7 days at a frequency of 1–2 months since 1 year and 6 months of age. Both her parents were not genetically related, and they had been healthy and had no history of abnormal CRP level except for infections. In addition, none of the family members had symptoms similar to those in the proband (Fig. 1A). The proband had no apparent abnormality in general growth and development. She also had no eye and skin involvements and had no apparent findings of aphthae and inflammatory bowel disease. Laboratory investigations showed the following results: immunoglobulin (Ig) G 1376 mg/dl, IgA 71 mg/dl, and IgM 330.1 mg/dl. CRP was 32 mg/l and serum amyloid A (SAA) was 285.7 mg/l during these fever attacks, and CRP was 4.6 mg/l during the non-attack periods. However, laboratory investigations had no relevant findings to suggest autoimmune diseases, immunodeficiency or infection. Fluoro-deoxy-D-glucose-PET/CT revealed systemic lymphadenopathy with moderate glucose uptake. Axillary lymph node biopsy findings indicated reactive follicular hyperplasia with increases in neutrophils and lymphocytes. A bone marrow aspiration smear showed no abnormality.

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