A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation

B-cell lymphoma/leukemia 11B (BCL11B) is a C2H2 zinc finger transcription factor that is critically important for regulating the development and function of a variety of systems including the central nervous system, the skin, and the immune system. Germline heterozygous variants are associated with...

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Autores principales:	Henry Y. Lu, Robert Sertori, Alejandra V. Contreras, Mark Hamer, Melina Messing, Kate L. Del Bel, Elena Lopez-Rangel, Edmond S. Chan, Wingfield Rehmus, Joshua D. Milner, Kelly M. McNagny, Anna Lehman, David L. Wiest, Stuart E. Turvey
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	primary atopic disorders inborn errors of immunity primary immunodeficiencies hyper IgE BCL11B Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/f50e031de8ce43bcbc391ea6adbd0236
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spelling	oai:doaj.org-article:f50e031de8ce43bcbc391ea6adbd02362021-11-30T13:01:45ZA Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation1664-322410.3389/fimmu.2021.788278https://doaj.org/article/f50e031de8ce43bcbc391ea6adbd02362021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fimmu.2021.788278/fullhttps://doaj.org/toc/1664-3224B-cell lymphoma/leukemia 11B (BCL11B) is a C2H2 zinc finger transcription factor that is critically important for regulating the development and function of a variety of systems including the central nervous system, the skin, and the immune system. Germline heterozygous variants are associated with a spectrum of clinical disorders, including severe combined immunodeficiency as well as neurological, craniofacial, and dermal defects. Of these individuals, ~50% present with severe allergic disease. Here, we report the detailed clinical and laboratory workup of one of the most severe BCL11B-dependent atopic cases to date. Leveraging a zebrafish model, we were able to confirm a strong T-cell defect in the patient. Based on these data, we classify germline BCL11B-dependent atopic disease as a novel primary atopic disorder.Henry Y. LuHenry Y. LuRobert SertoriAlejandra V. ContrerasMark HamerMelina MessingMelina MessingKate L. Del BelElena Lopez-RangelEdmond S. ChanWingfield RehmusJoshua D. MilnerKelly M. McNagnyKelly M. McNagnyAnna LehmanDavid L. WiestStuart E. TurveyStuart E. TurveyFrontiers Media S.A.articleprimary atopic disordersinborn errors of immunityprimary immunodeficiencieshyper IgEBCL11BImmunologic diseases. AllergyRC581-607ENFrontiers in Immunology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	primary atopic disorders inborn errors of immunity primary immunodeficiencies hyper IgE BCL11B Immunologic diseases. Allergy RC581-607
spellingShingle	primary atopic disorders inborn errors of immunity primary immunodeficiencies hyper IgE BCL11B Immunologic diseases. Allergy RC581-607 Henry Y. Lu Henry Y. Lu Robert Sertori Alejandra V. Contreras Mark Hamer Melina Messing Melina Messing Kate L. Del Bel Elena Lopez-Rangel Edmond S. Chan Wingfield Rehmus Joshua D. Milner Kelly M. McNagny Kelly M. McNagny Anna Lehman David L. Wiest Stuart E. Turvey Stuart E. Turvey A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
description	B-cell lymphoma/leukemia 11B (BCL11B) is a C2H2 zinc finger transcription factor that is critically important for regulating the development and function of a variety of systems including the central nervous system, the skin, and the immune system. Germline heterozygous variants are associated with a spectrum of clinical disorders, including severe combined immunodeficiency as well as neurological, craniofacial, and dermal defects. Of these individuals, ~50% present with severe allergic disease. Here, we report the detailed clinical and laboratory workup of one of the most severe BCL11B-dependent atopic cases to date. Leveraging a zebrafish model, we were able to confirm a strong T-cell defect in the patient. Based on these data, we classify germline BCL11B-dependent atopic disease as a novel primary atopic disorder.
format	article
author	Henry Y. Lu Henry Y. Lu Robert Sertori Alejandra V. Contreras Mark Hamer Melina Messing Melina Messing Kate L. Del Bel Elena Lopez-Rangel Edmond S. Chan Wingfield Rehmus Joshua D. Milner Kelly M. McNagny Kelly M. McNagny Anna Lehman David L. Wiest Stuart E. Turvey Stuart E. Turvey
author_facet	Henry Y. Lu Henry Y. Lu Robert Sertori Alejandra V. Contreras Mark Hamer Melina Messing Melina Messing Kate L. Del Bel Elena Lopez-Rangel Edmond S. Chan Wingfield Rehmus Joshua D. Milner Kelly M. McNagny Kelly M. McNagny Anna Lehman David L. Wiest Stuart E. Turvey Stuart E. Turvey
author_sort	Henry Y. Lu
title	A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
title_short	A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
title_full	A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
title_fullStr	A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
title_full_unstemmed	A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
title_sort	novel germline heterozygous bcl11b variant causing severe atopic disease and immune dysregulation
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/f50e031de8ce43bcbc391ea6adbd0236
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A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation

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