. DEFECTS OF ADAPTIVE IMMUNITY .

Bare Lymphocyte Syndrome (BLS) panel [13 genes]

Bare lymphocyte syndrome (BLS) is a group of combined immunodeficiencies in which B and T cells do not express the major histocompatibility (HLA) proteins on their surface. There are three types of BLS: BLS I is characterized by low or no expression of HLA class I molecules and a reduced number of functional B and T cells; BLS II is characterized by a reduction or complete loss of HLA class II protein expression on the surface of professional APCs that ultimately leads to a deficit of antibody production, and BLS III is caused by the absence of both HLA class I and class II antigen expression

Clinical features

  • Respiratory tract infections
  • Agammaglobulinemia
  • BLS II more severe than BLS I
  • Onset: infancy, childhood

Prevalence

  • BLS I: aprox. 30 cases
  • BLS II: aprox. 100 cases

Service benefits and management

  • Differential diagnosis: SCID
  • Genetic counselling
  • Hematopoietic stem cell transplantation (HSCT)
  • Gene therapy

B2M, CD8A, CIITA, LCK, MAGT1, RFX5, RFXANK, RFXAP, TAP1, TAP2, TAPBP, UNC119, ZAP70

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