Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not?

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Simona GrazianiViviana Moschese

Abstract

The identification of a Btk mutation in a male patient with <2% CD19(+) B cells warrants making the diagnosis of X-linked Agammaglobulinemia (XLA). Herein we report the case of a 31 year-old male with a gradual decline of peripheral B lymphocytes and low IgA and IgM but normal IgG levels. His clinical history revealed recurrent respiratory and skin infections, sclerosing cholangitis and chronic obstructive pancreatitis. Molecular studies revealed a novel aminoacidic substitution in Btk protein (T316A). His mother, maternal aunts and a maternal female cousin were heterozygotes for the same Btk mutation and were variably affected with pulmonary emphysema. This is a puzzling case where the patient's clinical history and laboratory findings divorce molecular genetics. Either this case confirms the variable expressivity of XLA disease or the T316A change in Btk SH2 domain is a novel non-pathogenic mutation and another unknown gene alteration is responsible for the disease.

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Citations

May 14, 2014·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Hung-Yi ChanBor-Luen Chiang
Jun 4, 2013·The Journal of Allergy and Clinical Immunology·Maaz S MohiuddinErwin W Gelfand
Aug 5, 2009·Current Opinion in Immunology·Mary Ellen Conley
Jul 12, 2008·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Thomas A Fleisher, Luigi D Notarangelo
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Dec 6, 2017·Expert Review of Clinical Immunology·Eduardo Carrillo-TapiaGabriela López-Herrera
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Feb 9, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Roshini S Abraham, Manish J Butte
Jun 29, 2021·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Monica T KraftRoshini S Abraham

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