X-linked Agammaglobulinemia [ Bruton disease]

Question 1

Bruton disease etiology

Answer 1

• Gene mutation in BTK = Bruton Tyrosine kinase

**Manifest at 6 – 12 months of Age

*X-linked recessive

Question 2

Bruton disease Clinically

Answer 2

*mostly in boys
*onset 3-6 months
- CD19 ,20,21 low , Hypoplasia in LNs and tonsils - recurrent bacterial infection [Encapsulated bacteria – H.influenza, s.
pneumonia , N.meningitis ; Viruses – Coxsackie virus

Question 3

Bruton disease Treatment

Answer 3

IVIG + Prophylactic antibiotics

Question 4

diagnosis

Answer 4

*low IG (all types )
*in flow cytometry :absense or low levels of of B cells ,norma or high T cells
*genetic testing