An early-onset SLE patient with a novel paternal inherited BACH2 mutation

Zhou, Lina; Sun, Gan; Chen, Ran; Chen, Junjie; Fang, Shuyu; Xu, Qiling; Tang, Wenjing; Dai, Rongxin; Zhang, Zhiyong; An, Yunfei; Tang, Xuemei; Zhao, Xiaodong

doi:10.1007/s10875-023-01506-7

Cited by 4 publications

(4 citation statements)

References 29 publications

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“…A new syndrome termed ‘BACH2-related immunodeficiency and autoimmunity’ (BRIDA) appears to be a monogenic primary immunodeficiency resulting from novel deleterious heterozygous point mutations in BACH2. These mutations result in reduced BACH2 expression and transcriptional repression of BLIMP in patient lymphoblastoid cells, reduced memory B cells, and systemic lupus erythematosus (SLE) symptoms [ 21 , 22 ]. BACH2-promoter methylation is associated with irritable bowel syndrome (IBS) [ 16 ].…”

Section: Bach2-associated Diseasesmentioning

confidence: 99%

BACH2: The Future of Induced T-Regulatory Cell Therapies

Zwick,

Vo,

Shim

et al. 2024

Cells

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BACH2 (BTB Domain and CNC Homolog 2) is a transcription factor that serves as a central regulator of immune cell differentiation and function, particularly in T and B lymphocytes. A picture is emerging that BACH2 may function as a master regulator of cell fate that is exquisitely sensitive to cell activation status. In particular, BACH2 plays a key role in stabilizing the phenotype and suppressive function of transforming growth factor-beta (TGF-β)-derived human forkhead box protein P3 (FOXP3)+ inducible regulatory T cells (iTregs), a cell type that holds great clinical potential as a cell therapeutic for diverse inflammatory conditions. As such, BACH2 potentially could be targeted to overcome the instability of the iTreg phenotype and suppressive function that has hampered their clinical application. In this review, we focus on the role of BACH2 in T cell fate and iTreg function and stability. We suggest approaches to modulate BACH2 function that may lead to more stable and efficacious Treg cell therapies.

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Section: Bach2-associated Diseasesmentioning

confidence: 99%

BACH2: The Future of Induced T-Regulatory Cell Therapies

Zwick,

Vo,

Shim

et al. 2024

Cells

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“…Immunodeficiency and autoimmunity 1 (in 2023) [92,93] LRBA Immunodeficiency, common variable, with autoimmunity 1 (in 2020) [90] Monogenic lupus Qin et al CLL, chronic lymphocytic leukaemia; HSE, herpes simplex encephalitis; HUV, hypocomplementaemic urticarial vasculitis; ITP, immune thrombocytopenic purpura; NA, not available; SS, systemic sclerosis; SSd, Sj€ ogren syndrome. a Protein name specified in instances where it differs from the gene name.…”

Section: Bach2mentioning

confidence: 99%

“…BACH2 is a crucial transcription gene regulating T and B cell development, and its deficiency has been linked to SLE in mouse studies ( 92 ). Recently, a case of early-onset SLE in a BRIDA (BACH2-related immunodeficiency and autoimmunity) patient has suggested that BACH2 variants may constitute a potential monogenic cause of SLE ( 93 ).…”

Section: Introductionmentioning

confidence: 99%

Monogenic lupus: insights into disease pathogenesis and therapeutic opportunities

Qin,

Ma,

Vinuesa

2024

Current Opinion in Rheumatology

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Purpose of review This review aims to provide an overview of the genes and molecular pathways involved in monogenic lupus, the implications for genome diagnosis, and the potential therapies targeting these molecular mechanisms. Recent findings To date, more than 30 genes have been identified as contributors to monogenic lupus. These genes are primarily related to complement deficiency, activation of the type I interferon (IFN) pathway, disruption of B-cell and T-cell tolerance and metabolic pathways, which reveal the multifaceted nature of systemic lupus erythematosus (SLE) pathogenesis. Summary In-depth study of the causes of monogenic lupus can provide valuable insights into of pathogenic mechanisms of SLE, facilitate the identification of effective biomarkers, and aid in developing therapeutic strategies.

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“…Dennoch gibt es bislang nur einzelne Fallberichte des Einsatzes von beispielsweise Tofacitinib bei refraktärem Lupus und insbesondere bei kutanen Manifestationen wie Alopezie. Im Kindesalter gibt es Fallberichte nur zu genetischen Formen des SLE [14,15].…”

Section: Jak-inhibitionunclassified

Therapierefraktäre Verläufe beim juvenilen systemischen Lupus erythematodes

Tenbrock

2023

Arthritis und Rheuma

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ZUSAMMENFASSUNGDie Behandlung des juvenilen systemischen Lupus erythematodes ist komplex und abhängig von der Organmanifestation. Es gibt keine konsentierten Empfehlungen, was die Definition einer therapierefraktären Erkrankung betrifft. Insofern ist es zunächst sinnvoll, Therapieziele zu definieren, die man z. B. im Sinne eines Treat-to-Target (T2T)-Konzeptes erreichen möchte und ausgehend von diesen dann die Refraktärität zu definieren. In diesem Artikel wird das Konzept der Therapierefraktärität diskutiert, das T2T-Konzept erläutert und es werden aktuelle und zukünftige Therapieoptionen diskutiert, die bei Nichterlangen des Therapieziels eingesetzt werden können.

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An early-onset SLE patient with a novel paternal inherited BACH2 mutation

Cited by 4 publications

References 29 publications

BACH2: The Future of Induced T-Regulatory Cell Therapies

BACH2: The Future of Induced T-Regulatory Cell Therapies

Monogenic lupus: insights into disease pathogenesis and therapeutic opportunities

Therapierefraktäre Verläufe beim juvenilen systemischen Lupus erythematodes

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