AUTHOR=Gupta Maya , Aluri Jahnavi , Desai Mukesh , Lokeshwar Madhukar , Taur Prasad , Lenardo Michael , Bergerson Jenna , Dalvi Aparna , Mhatre Snehal , Kulkarni Manasi , Kambli Priyanka , Madkaikar Manisha 

TITLE=Clinical, Immunological, and Molecular Findings in Four Cases of B Cell Expansion With NF-κB and T Cell Anergy Disease for the First Time From India

JOURNAL=Frontiers in Immunology

VOLUME=9

YEAR=2018

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2018.01049

DOI=10.3389/fimmu.2018.01049

ISSN=1664-3224

ABSTRACT=<p>B cell expansion with NF-κB and T cell anergy (BENTA) is a rare primary immunodeficiency disorder caused by mutations in the <italic>CARD11</italic> gene and results in constitutive NF-κB activation in B and T cells. Affected patients present with polyclonal expansion of B cells at an early age with splenomegaly, lymphadenopathy, and mild autoimmunity. Here, we discuss four BENTA cases with unusual clinical manifestations not previously reported. All patients showed previously reported gain-of-function mutations (G123S, G123D, and C49Y) in the <italic>CARD11</italic> gene. Severe autoimmune manifestations were noted for the first time in all our patients.</p>