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Mutations in the TNFAIP3 gene resulting in A20 haploinsufficiency (HA20) have been identified as a new cause of autoinflammation linked to uncontrolled nuclear factor kappa B (NF-κB) activation.1 A recent report published in the Annals of the Rheumatic Diseases highlighted the main clinical manifestations of the 16 patients who presented with recurrent oral, genital, gastrointestinal ulcerations and various inflammatory features (skin lesions, musculoskeletal disorders and recurrent fever) associated in some cases to autoimmunity mimicking a lupus.2 Some of the patients also experienced recurrent infections. TNFAIP3 anomalies included monoallelic nonsense and frameshift mutations.1
Here, we report that HA20 can be part of a more complex genetic syndrome. We describe the new case of a boy who presented with mild intellectual disability with normal MRI and dysmorphic features including short stature, large forehead, thin lips and visible muscles (figure 1A). Of note, he had a heterotaxis with …
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