This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Abstract
We present a 22-month-old boy with X-linked agammaglobulinemia masked by normal immunoglobulin levels and vaccine seroconversion. Diagnosis was made after strong clinical suspicion of immune deficiency led to identification of markedly reduced B-cell numbers and confirmation with identification of a novel Bruton tyrosine kinase gene mutation. He was commenced on replacement immunoglobulin therapy with excellent clinical improvement. This case highlights the variability of phenotypic presentation and apparent disunity between routine immunologic investigations and severe disease in X-linked agammaglobulinemia, necessitating clinical acumen to make the diagnosis.
- Accepted July 30, 2015.
- Copyright © 2015 by the American Academy of Pediatrics
Individual Login
Institutional Login
You may be able to gain access using your login credentials for your institution. Contact your librarian or administrator if you do not have a username and password.
Log in through your institution
Pay Per Article - You may access this article (from the computer you are currently using) for 2 days for US$25.00
Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.