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
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, ly...
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Frontiers Media S.A.
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| Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2018.01049/full |
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doaj-236a1753b2e54879a83cb30743ad2ea52020-11-24T23:11:32ZengFrontiers Media S.A.Frontiers in Immunology1664-32242018-06-01910.3389/fimmu.2018.01049354011Clinical, Immunological, and Molecular Findings in Four Cases of B Cell Expansion With NF-κB and T Cell Anergy Disease for the First Time From IndiaMaya Gupta0Jahnavi Aluri1Mukesh Desai2Madhukar Lokeshwar3Prasad Taur4Michael Lenardo5Jenna Bergerson6Aparna Dalvi7Snehal Mhatre8Manasi Kulkarni9Priyanka Kambli10Manisha Madkaikar11Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, IndiaDepartment of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, IndiaDivision of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, IndiaKashyap Nursing Home, Mumbai, IndiaDivision of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, IndiaClinical Genomics Program, Molecular Development of the Immune System Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United StatesClinical Genomics Program, Molecular Development of the Immune System Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United StatesDepartment of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, IndiaDepartment of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, IndiaDepartment of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, IndiaDepartment of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, IndiaDepartment of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, IndiaB 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.https://www.frontiersin.org/article/10.3389/fimmu.2018.01049/fullCARD11polyclonal B cell lymphocytosisNF-κBGOF mutationautoimmune lymphoproliferative syndrome |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Maya Gupta Jahnavi Aluri Mukesh Desai Madhukar Lokeshwar Prasad Taur Michael Lenardo Jenna Bergerson Aparna Dalvi Snehal Mhatre Manasi Kulkarni Priyanka Kambli Manisha Madkaikar |
| spellingShingle |
Maya Gupta Jahnavi Aluri Mukesh Desai Madhukar Lokeshwar Prasad Taur Michael Lenardo Jenna Bergerson Aparna Dalvi Snehal Mhatre Manasi Kulkarni Priyanka Kambli Manisha Madkaikar 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 Frontiers in Immunology CARD11 polyclonal B cell lymphocytosis NF-κB GOF mutation autoimmune lymphoproliferative syndrome |
| author_facet |
Maya Gupta Jahnavi Aluri Mukesh Desai Madhukar Lokeshwar Prasad Taur Michael Lenardo Jenna Bergerson Aparna Dalvi Snehal Mhatre Manasi Kulkarni Priyanka Kambli Manisha Madkaikar |
| author_sort |
Maya Gupta |
| 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 |
| title_short |
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 |
| title_full |
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 |
| title_fullStr |
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 |
| title_full_unstemmed |
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 |
| title_sort |
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 |
| publisher |
Frontiers Media S.A. |
| series |
Frontiers in Immunology |
| issn |
1664-3224 |
| publishDate |
2018-06-01 |
| description |
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. |
| topic |
CARD11 polyclonal B cell lymphocytosis NF-κB GOF mutation autoimmune lymphoproliferative syndrome |
| url |
https://www.frontiersin.org/article/10.3389/fimmu.2018.01049/full |
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