Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome

Ann Allergy Asthma Immunol. 2016 Jun;116(6):578-9. doi: 10.1016/j.anai.2016.03.014. Epub 2016 Apr 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / diagnosis*
  • Chromosomes, Human, Pair 22 / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Deaf-Blind Disorders / diagnosis*
  • Dystonia / diagnosis*
  • Genetic Diseases, X-Linked / diagnosis*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Male
  • Membrane Transport Proteins / genetics
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Optic Atrophy / diagnosis*
  • Paraplegia
  • Pedigree
  • Protein-Tyrosine Kinases / genetics
  • Sensory Receptor Cells / pathology*
  • Sequence Deletion
  • TATA-Binding Protein Associated Factors / genetics
  • Transcription Factor TFIID / genetics
  • Young Adult

Substances

  • Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • TAF7 protein, human
  • TATA-Binding Protein Associated Factors
  • TIMM8A protein, human
  • Transcription Factor TFIID
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase

Supplementary concepts

  • Bruton type agammaglobulinemia
  • Mohr-Tranebjaerg syndrome