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.

Autor:	Gupta M; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, India., Aluri J; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, India., Desai M; Division of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India., Lokeshwar M; Kashyap Nursing Home, Mumbai, India., Taur P; Division of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India., Lenardo M; Clinical 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 States., Bergerson J; Clinical 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 States., Dalvi A; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, India., Mhatre S; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, India., Kulkarni M; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, India., Kambli P; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, India., Madkaikar M; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), Mumbai, India.
Jazyk:	angličtina
Zdroj:	Frontiers in immunology [Front Immunol] 2018 Jun 14; Vol. 9, pp. 1049. Date of Electronic Publication: 2018 Jun 14 (Print Publication: 2018).
DOI:	10.3389/fimmu.2018.01049
Abstrakt:	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.
Databáze:	MEDLINE
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