LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Rosain, Jérémie; Deswarte, Caroline; Hancıoğlu, Gonca; Oleaga-Quintas, Carmen; Kutluğ, Şeyhan; Kartal, İbrahim; Kuzu, Işınsu; Toullec, Laurie; Tusseau, Maud; Casanova, Jean‐Laurent; Yıldıran, Alişan; Bustamante, Jacinta

doi:10.1007/s10875-019-00667-8

Cited by 5 publications

(2 citation statements)

References 13 publications

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“…Experiments were performed in two batches. In the first batch, PBMCs were obtained from 20 healthy adult donors; four age-matched controls (2, 6, 7, and 8 years of age); P (4 years of age at the time of sampling); P's healthy brother (8 years of age at the time of sampling), who is wild type (WT) for the TBX21 locus; and P's healthy mother, who is heterozygous for the mutation (54,(98)(99)(100). In the second batch, PBMCs were obtained from 10 healthy adult donors and a patient with complete STAT1 deficiency (66).…”

Section: Immunophenotyping Of Abcs With Spectral Flow Cytometrymentioning

confidence: 99%

“…PBMCs from four age-matched controls (sample codes: #906, #4156, #1093, and #14881 with ages ranging from 2 to 8 years), three IFN-R1-deficient patients (sample codes: #1114, #13391, and #15553), the T-bet-deficient patient (P or M/M), and P's healthy brother (WT/WT) were isolated and frozen on different dates (54,(98)(99)(100). We stained 3 × 10 6 PBMCs from each individual with Zombie NIR live-dead exclusion dye (BioLegend).…”

Section: Cellular Indexing Of Transcriptomes and Epitopes By Sequencingmentioning

confidence: 99%

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Human T-bet governs the generation of a distinct subset of CD11c ^high CD21 ^low B cells

et al. 2022

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High-level expression of the transcription factor T-bet characterizes a phenotypically distinct murine B cell population known as “age-associated B cells” (ABCs). T-bet–deficient mice have reduced ABCs and impaired humoral immunity. We describe a patient with inherited T-bet deficiency and largely normal humoral immunity including intact somatic hypermutation, affinity maturation and memory B cell formation in vivo, and B cell differentiation into Ig-producing plasmablasts in vitro. Nevertheless, the patient exhibited skewed class switching to IgG1, IgG4, and IgE, along with reduced IgG2, both in vivo and in vitro. Moreover, T-bet was required for the in vivo and in vitro development of a distinct subset of human B cells characterized by reduced expression of CD21 and the concomitantly high expression of CD19, CD20, CD11c, FCRL5, and T-bet, a phenotype that shares many features with murine ABCs. Mechanistically, human T-bet governed CD21 lo CD11c hi B cell differentiation by controlling the chromatin accessibility of lineage-defining genes in these cells: FAS , IL21R , SEC61B , DUSP4 , DAPP1 , SOX5 , CD79B , and CXCR4 . Thus, human T-bet is largely redundant for long-lived protective humoral immunity but is essential for the development of a distinct subset of human CD11c hi CD21 lo B cells.

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Section: Immunophenotyping Of Abcs With Spectral Flow Cytometrymentioning

confidence: 99%

Section: Cellular Indexing Of Transcriptomes and Epitopes By Sequencingmentioning

confidence: 99%

Human T-bet governs the generation of a distinct subset of CD11c ^high CD21 ^low B cells

et al. 2022

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Mendelian susceptibility to mycobacterial disease: recent discoveries

2020

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Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant

Zhang

Ying

et al. 2021

J Clin Immunol

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LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Cited by 5 publications

References 13 publications

Human T-bet governs the generation of a distinct subset of CD11c ^high CD21 ^low B cells

Human T-bet governs the generation of a distinct subset of CD11c ^high CD21 ^low B cells

Mendelian susceptibility to mycobacterial disease: recent discoveries

Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant

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LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Cited by 5 publications

References 13 publications

Human T-bet governs the generation of a distinct subset of CD11c high CD21 low B cells

Human T-bet governs the generation of a distinct subset of CD11c high CD21 low B cells

Mendelian susceptibility to mycobacterial disease: recent discoveries

Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant

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Product

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Human T-bet governs the generation of a distinct subset of CD11c ^high CD21 ^low B cells

Human T-bet governs the generation of a distinct subset of CD11c ^high CD21 ^low B cells