What are the alternative names for Bare Lymphocyte Syndrome?

  • BLS type 1
  • HLA class 1 deficiency
  • Condition: Novel Mutation in RFXANK Gene and Low B Cell Count in Patient with MHC Class II Deficiency
  • Journal: Immunologic research
  • Treatment Used: Intravenous Immunoglobulin Infusion, Hematopoietic Stem Cell Transplantation
  • Number of Patients: 1
  • Published —
This case report describes a 5-year-old boy diagnosed with a novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency treated with intravenous immunoglobulin infusion.
  • Condition: Adenosine deaminase-deficient
  • Journal: Clinical immunology (Orlando, Fla.)
  • Treatment Used: Enzyme replacement therapy
  • Number of Patients: 1
  • Published —
The study researched an adenosine deaminase-deficient patient who used enzyme replacement therapy for 27 years.
Clinical Trial
  • Status: Recruiting
  • Phase: N/A
  • Intervention Type: Genetic
  • Participants: 5
  • Start Date: November 1, 2021
Phase I/II Clinical Trial of Autologous Hematopoietic Stem Cell Gene Therapy in RAG1-Deficient Severe Combined Immunodeficiency
Clinical Trial
  • Status: Not yet recruiting
  • Phase: Phase 1
  • Intervention Type: Biological
  • Participants: 8
  • Start Date: August 2021
Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency