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GENATLAS PHENOTYPE
last update : 13-01-2022
Symbol AGM8
Location 19p13.3
Name agammaglobulinemia 8, autosomal dominant
Corresponding gene TCF3
Main clinical features
  • in the first years of life, severe infections, including pneumococcal meningitis, recurrent otitis, vaccine-associated polio, and arthritis
  • laboratory studies showed severely decreased levels of serum immunoglobulins and less than 3p100 of CD19+ circulating B cells
  • bone marrow biopsy showed a severe reduction in the number of pro- and pre-B cells
  • Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Remark(s)