Article
Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.
Human immunology - 1 Apr 2022
Madathil Govindaraj Geeta, Jain Abhinav, Edavazhippurath Athulya, Bhoyar Rahul C, Dhanasooraj Dhananjayan, Mishra Anushree, Gupta Vishu, Nair Mohandas, Shiny P M, Uppuluri Ramya, Kumar Anoop, Kashyap Atul, Ajith Kumar V T, Shankaran Gireesh, Senthivel Vigneshwar, Imran Mohamed, Kumar Divakar Mohit, Sawant Sneha, Dalvi Aparna, Madkaikar Manisha, Raj Revathi, Sivasubbu Sridhar, Scaria Vinod
Abstract excerpt
X-linked agammaglobulinemia (XLA) is an X-linked recessive primary immunodeficiency disorder caused due to a pathogenic variant in the Bruton tyrosine (BTK) gene with an incidence of 1:379,000 live births and 1:190,000 male births. Patients affected with XLA present with recurrent infections of the gastrointestinal and respiratory tracts. Here we report the first case series of 17 XLA patients of 10 South Indian...
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