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
|
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Published in |
Frontiers in immunology, June 2018
|
DOI | 10.3389/fimmu.2018.01049 |
Pubmed ID | |
Authors |
Maya Gupta, Jahnavi Aluri, Mukesh Desai, Madhukar Lokeshwar, Prasad Taur, Michael Lenardo, Jenna Bergerson, Aparna Dalvi, Snehal Mhatre, Manasi Kulkarni, Priyanka Kambli, Manisha Madkaikar |
Abstract |
B cell expansion with NF-κB and T cell anergy (BENTA) is a rare primary immunodeficiency disorder caused by mutations in the CARD11 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 CARD11 gene. Severe autoimmune manifestations were noted for the first time in all our patients. |
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