Immunology - Diseases Flashcards
1
Q
X-linked (Bruton’s) agammaglobulinemia
A
Defect in BTK, a tyrosine kinase gene, causing lack of B cell maturation
Presents as recurrent bacterial infections in boys after 6 months of age, when maternal IgG levels decline
Decreased Ig of all classes
Absent/scanty lymph nodes and tonsils
Trx: IVIG
2
Q
Wiskott-Aldrich Syndrome
A
X-linked recessive mutation of WAS gene
Presents with eczema, thrombocytopenia, and recurrent infections
Normal/low levels of IgG/IgM; high IgA/IgE
