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Front. Immunol. | doi: 10.3389/fimmu.2018.01049

Clinical, Immunological, and Molecular Findings in four cases of B cell Expansion with NF-κB and T cell Anergy (BENTA) Disease for the first time from India.

 Maya R. Gupta1,  Jahnavi Aluri1, Mukesh Desai2, Prasad Taur2, Michael Lenardo3,  Jenna Bergerson3, Aparna Dalvi1, Snehal Mhatre1,  Manasi Kulkarni1, Priyanka Kambli1 and Manisha Madkaikar1*
  • 1National Institute of Immunohaematology (ICMR), India
  • 2Bai Jerbai Wadia Hospital for Children, India
  • 3National Institutes of Health (NIH), United States

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 the 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.

Keywords: CARD11, Polyclonal B cell lymphocytosis, NFκB, GOF mutation, ALPS

Received: 22 Jan 2018; Accepted: 27 Apr 2018.

Edited by:

Guzide Aksu, Ege University, Turkey

Reviewed by:

Ruben Martinez-Barricarte, Rockefeller University, United States
Andrew L. Snow, Uniformed Services University of the Health Sciences, United States  

Copyright: © 2018 Gupta, Aluri, Desai, Taur, Lenardo, Bergerson, Dalvi, Mhatre, Kulkarni, Kambli and Madkaikar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Manisha Madkaikar, National Institute of Immunohaematology (ICMR), Mumbai, India, madkaikarmanisha@gmail.com