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Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy
  1. Sébastien Viel1,2,3,4,5,6,
  2. Elodie Cheyssac7,
  3. Rémi Pescarmona1,2,3,4,5,6,
  4. Laurie Besson1,2,3,4,5,
  5. Marianne Till8,
  6. Loïc Viremouneix9,
  7. Isabelle Touitou10,
  8. Guillaume Sarrabay10,
  9. Thierry Walzer1,2,3,4,5,
  10. Alexandre Belot1,2,7,3,4,5
  1. 1CIRI, Centre International de Recherche en Infectiologie - International Center for Infectiology Research, Lyon, France
  2. 2U1111, Inserm, Lyon, France
  3. 3Ecole Normale Supérieure de Lyon, Lyon, France
  4. 4Université Lyon 1, Lyon, France
  5. 5CNRS, UMR5308, Lyon, France
  6. 6Laboratoire d’Immunologie, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France
  7. 7Service de Néphrologie Rhumatologie Dermatologie Pédiatriques, Centre de référence RAISE, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France
  8. 8Service de Cytogénétique, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France
  9. 9Service de Radiologie Pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France
  10. 10Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies, INSERM, Université de Montpellier, Département de génétique médicale, maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France
  1. Correspondence to Dr Alexandre Belot, CIRI, Centre International de Recherche en Infectiologie - International Center for Infectiology Research, Lyon 69007, France; alexandre.belot{at}chu-lyon.fr

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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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