Background and Aims

1) A 29 years old male. Maternal uncle died at 4 months of age with infections. Started with recurrent episodes of pneumonia at age 6 months. He was diagnosed at 6 years of age with Agammaglobulinemia. When he was 17 years, he was admitted in our institution with pneumonia, lung abscess and pericarditis.

2) A 19 years old male, brother of case1. He started at 3 months of age with multiple otitis. He presented two meningitis and pneumonia at age of 7. Agammaglobulinemia was diagnosed. He presented with cough, asthenia and low weight, hearing loss of the left side. Lung CT reported bronchiectasis.

3) A 6 years old male. 2 maternal cousins ​​with PID (case1-2). He started at one year with otitis. When he was 4 years old he presented with a new episodic of otitis follow by gastroenteritis and then meningitis.

4) A 3 years old male. Brother of case 3. At 11 months of age, he developed herpes zoster

Methods

Four cases in a family with recurrent infections in whom a late diagnosis was made. Levels of immunoglobulins and Subpopulations B cells reported:

Results

Affectation of both children of 2 sisters (case 1 and 2), children of different parents, make us suspect an agammaglobulinemia linked to X by a mutation in the BTK gene.

Conclusions

We report 4 male patients with XLA who presented with typical clinical findings and whose diagnosis was confirmed. Because the diagnosis was made late and only after many episodes of serious infections, two of them developed complications.