Abstract
X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding Bruton's tyrosine kinase. We report a case of a young Indian boy suspected to have XLA. Immunophenotyping was performed for the affected child using CD20, CD19 and CD3 antibodies. Whole exome sequencing was performed using trio-based approach. The variants were further analyzed using capillary sequencing in the trio as well as maternal grandmother. Initial immunophenotyping in the affected child showed decreased count of CD19+ B cells. To strengthen the clinical findings and confirm the diagnosis of XLA, we performed whole exome sequencing. Our analysis identified a novel frameshift insertion (c.1325dupT) in theBTKgene, which was further validated by Sanger sequencing. Our approach shows the potential in using whole exome sequencing to pinpoint the molecular lesion, enabling timely diagnosis and genetic counseling, and potentially offering prenatal genetic testing for the family.
Highlights
Primary immunodeficiencies are congenital defects in the immune defence mechanisms of the host against invading pathogens
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder characterized by recurrent infections causing pneumonia, conjunctivitis, gastrointestinal infections, otitis media and sinopulmonary infections[1]
Recent reports have suggested the application of whole exome sequencing for mutation detection in a variety of primary immunodeficiency cases[14,15]
Summary
Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with. Amit Rawat1*, Shamsudheen Karuthedath Vellarikkal2,3*, Ankit Verma3*, Rijith Jayarajan[3], Anju Gupta[1], Surjit Singh[1], Anita Chopra[4], Rajive Kumar[4], Vinod Scaria[2,5], Sridhar Sivasubbu[2,3].
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