1. [X-linked agammaglobulinemia (XLA) associated with agranulocytosis--case report].
- Author
-
Irga N, Wierzba J, Brozek J, Ochman K, Kanegane H, Miyawaki T, and Neuman-Łaniec M
- Subjects
- Agammaglobulinaemia Tyrosine Kinase, Agammaglobulinemia complications, Agammaglobulinemia therapy, Agranulocytosis diagnosis, Child, Preschool, Humans, Immunoglobulins, Intravenous therapeutic use, Male, Mutation, Time Factors, Treatment Outcome, Agammaglobulinemia diagnosis, Agammaglobulinemia genetics, Agranulocytosis etiology, Chromosomes, Human, X, Genetic Linkage, Protein-Tyrosine Kinases genetics
- Abstract
In this case study authors presented the clinical characteristics of X-linked agammaglobulinemia (XLA) associated with agranulocytosis diagnosed in a 2-year-old boy. Affected child lacked circulating mature B cells, presented low levels of serum immunoglobulins, but did not suffer from recurrent bacterial infections. XLA is a primary immunodeficiency caused by a defective tyrosine kinase (Btk) in B cells. Our patient and his mother have a mutation in the BTK gene, described as W281X. During therapy with intravenous gammaglobulin, the boy has not experienced agranulocytosis. It is important to consider a primary immunodeficiency diagnosis when a child presents agranulocytosis or neutropenia and a recurrent infectious disease.
- Published
- 2003