A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature

Clin Immunol. 2017 May;178:74-78. doi: 10.1016/j.clim.2017.01.011. Epub 2017 Feb 2.


Major histocompatibility complex (MHC) class I deficiency syndrome is a rare primary immunodeficiency caused by mutations in the peptide transporter complex associated with antigen presentation (TAP) gene which plays a crucial role in intracellular peptide antigen presentation. A few cases have been reported to date. Recurrent sinopulmonary infections and skin ulcers are the main characteristics of the syndrome. Here we report two siblings diagnosed with TAP1 deficiency syndrome associated only with recurrent sinopulmonary infections with the description of a novel mutation leading to a premature stop codon in TAP1 gene and review of the relevant literature. Both of the siblings had recurrent sinopulmonary infections since childhood, responded to antibiotherapy well, neither of them had hospitalization history because of infections. One had chronic hepatitis B infection which may possibly be related to TAP1 gene defect.

Keywords: Hepatitis B; MHC class I deficiency; Novel mutation; TAP1.

Publication types

  • Case Reports
  • Review

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 2 / genetics*
  • Adolescent
  • Adult
  • Bronchiectasis / etiology
  • Bronchiectasis / immunology
  • Female
  • Frameshift Mutation*
  • Hepatitis B, Chronic / etiology
  • Hepatitis B, Chronic / immunology
  • Histocompatibility Antigens Class I / immunology
  • Humans
  • Male
  • Recurrence
  • Respiratory Tract Infections / etiology
  • Respiratory Tract Infections / immunology
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • Siblings
  • Young Adult


  • ATP Binding Cassette Transporter, Subfamily B, Member 2
  • Histocompatibility Antigens Class I
  • TAP1 protein, human

Supplementary concepts

  • Bare Lymphocyte Syndrome, Type I