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Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation
  1. Mario Abinun1,
  2. Piotr Pieniazek2
  1. 1Department of Paediatric Immunology, Bone Marrow Transplantation Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  2. 2Department of Radiology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  1. Correspondence to Dr Mario Abinun, Department of Paediatric Immunology, Bone Marrow Transplantation Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Westgate Road, Newcastle upon Tyne NE4 6BE, UK; mario.abinun{at}ncl.ac.uk

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A 5-month-old infant of consanguineous parents (first cousins) presented with acute respiratory illness, hepatosplenomegaly, roving nystagmus and vision impairment. Pale optic nerves with little evidence of normal function (by visual evoked responses), good retinal responses and no features of retinal dystrophy (by electroretinography), loss of corpus callosum and atrophy of anterior visual pathway (by MRI) out of proportion for the optic …

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