Congenital Immunodeficiencies
•Name of Disorder      
•Origin of Defect    
•Specific Defect        
•Bruton=s agammaglobulinemia
•mutated gene on X chromosome
•blocked B cell maturation
•IgG subclass deficiency
•defect in Ig isotype switching
•blocked B cell differentiation
•Common variable immunodeficiency
•intrinsic B cell defect
•B cell differentiation to plasma cells abnormal
•DiGeorge=s syndrome
•abnormal thymus gland
•defect in T cell maturation
•SCID (autosomal rec.)
•PNP enzyme deficiency
•abnormal T & B cell development
•SCID (X-linked)
•IL-2 receptor gene mutation
•abnormal T cell growth & development
•Chronic granulomatous disease
•intracellular H2O2 not produced
•defective phagocytosis