CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 41-2015. A 14-Year-Old Boy with Immune and Liver Abnormalities

N Engl J Med. 2015 Dec 31;373(27):2664-76. doi: 10.1056/NEJMcpc1408595.
No abstract available

Publication types

  • Case Reports
  • Clinical Conference

MeSH terms

  • Adolescent
  • Brain / pathology*
  • Diabetes Mellitus, Type 1 / complications
  • Dyskeratosis Congenita / complications
  • Dyskeratosis Congenita / diagnosis*
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / diagnosis*
  • Learning Disabilities / complications
  • Liver / pathology*
  • Liver Function Tests
  • Male
  • Pedigree
  • Telomere / pathology

Supplementary concepts

  • Immune Deficiency Disease