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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-09-2017
Symbol IMD49
Location 14q32.2
Name Immunodeficiency 49
Corresponding gene BCL11B
Main clinical features
  • no detectable T-cell-receptor (TCR) excision circles (TRECs) and profound T-cell lymphopenia. Immunologic studies revealed a SCID T-, B+, NK+ phenotype, with no naive CD4+ helper T cells and impaired T-cell proliferative responses
  • associated with multiple abnormal systemic features, including neonatal teeth, hypotonia, wormian skull bones, dysmorphic facial features, mental retardation
  • Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    mental retardation
    Type disease