De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma.
BACKGROUND: X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of all immunoglobulins and the absence of mature B cells, is caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). Most patients have recurrent sinopulmonary infection. Infections usually occur in...
| Publicado en: | Annals of Allergy, Asthma & Immunology Vol. 96; no. 5; pp. 744 - 749 |
|---|---|
| Autores principales: | , , , , , , , |
| Formato: | case study Journal Article |
| Publicado: |
Elsevier B.V.
2006 May
|
| Acceso en línea: | Ver este registro en EBSCOhost |