Adenosine deaminase (enzyme) deficiency is associated with:: (A) Severe combined immunodeficiency (SCID), (B) X-linked agammaglobulinemia, (C) Transient hypogammaglobulinemia of infancy, (D) Chronic granulomatous disease
Answer is A. SCID- defect in common gamma chain of IL2 receptor along with IL-4,7 2nd M/C defect is -ADA deficiency total absence of T and B cell deficiency of PNP (purine nucleoside phosphorylase) X-linked agammaglobulinemia/ bruttons agamma globulinemia- defect in B tyrosine kinase gene pro B cell to pre B cell formation defect Transient hypogammaglobulinemia- delayed onset of normal IgG synthesis, self limiting. Chronic granulomatous disease- deficiency of NADPH oxidase. led to reccurent catalase positive infection eg.:-staph.