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Indications of Autoimmunity and Auto-Inflammation in X-Linked Agammaglobulinemia

✍ Scribed by Hernandez-Trujillo, Vivian P.; Scalchunes, Christopher; Cunningham-Rundles, Charlotte; Ochs, Hans D.; Sullivan, Kathleen E.


Book ID
123531383
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
35 KB
Volume
131
Category
Article
ISSN
1097-6825

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Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype va