X-LINKED AGAMAGLOBULINEAMIA (BRUTON)

Question 1

What gene is mutaded in XLA

Answer 1

Bruton´s tyrosine Kinasa (BTK)
↳ Protein with critical role in B cell proliferation and differentiation

Question 2

B cell development stops at what stage?

Answer 2

**Pro B cell **
↳ No B cell in blood
↳ Lack of antibodies of all classes

Question 3

At what age do symtomps start to develop?

Answer 3

Between 3 and 6 months when maternal IgG levels in fetal serum start to decrease

Question 4

Clinical Manifestations

Answer 4

-Pan-hypogammaglobulinemia
-Recurrent respiratory infections
1. Acute pharyngitis
2. Otitis media
3. Bronchitis
4. Pneumonia
5. Diarrhea by Giardia Lamblia

Question 5

Treatment

Answer 5

Lifelong IV infusions of Immunoglobulins