Kinase activity and XLA phenotypic variability

Patient 1 presented with normal IgA and IgE levels at diagnosis (Table I), currently maintained. [...]leaky phenotypes can be identified in this family, reinforcing the findings of Morwood et al1 and others2,3 associated with the R288W.

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2005, Vol.115 (1), p.205-206
Main Authors: de Diego, Rebeca Pérez, Granados, Eduardo López, Cerdán, Antonio Ferreira, Casariego, Gumersindo Fontán, Rodríguez, M. Cruz García
Format: Article
Language:English
Subjects:
Agammaglobulinemia - enzymology
Agammaglobulinemia - genetics
Child
Genetic Diseases, X-Linked - enzymology
Genetic Diseases, X-Linked - genetics
Genetic Variation
Genotype & phenotype
Humans
Infant
Kinases
Male
Meningitis
Mutation
Patients
Protein-Tyrosine Kinases - metabolism
src Homology Domains - genetics
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Description
Summary:Patient 1 presented with normal IgA and IgE levels at diagnosis (Table I), currently maintained. [...]leaky phenotypes can be identified in this family, reinforcing the findings of Morwood et al1 and others2,3 associated with the R288W.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2004.07.059