Clinical and immunological features of human BCL10 deficiency
B Garcia-Solis, A Van Den Rym… - Frontiers in …, 2021 - frontiersin.org
The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human
immune responses. The clinical and immunological consequences of deficiencies in some …
immune responses. The clinical and immunological consequences of deficiencies in some …
Human BCL10 deficiency due to homozygosity for a rare allele
A Van Den Rym, P Taur, R Martinez-Barricarte… - Journal of Clinical …, 2020 - Springer
In 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a
private BCL10 allele was reported to have complete inherited human BCL10 deficiency. In …
private BCL10 allele was reported to have complete inherited human BCL10 deficiency. In …
Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity
JM Torres, R Martinez-Barricarte… - The Journal of …, 2014 - Am Soc Clin Investig
Heterotrimers composed of B cell CLL/lymphoma 10 (BCL10), mucosa-associated lymphoid
tissue lymphoma translocation protein 1 (MALT1), and caspase recruitment domain …
tissue lymphoma translocation protein 1 (MALT1), and caspase recruitment domain …
Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective
JM García-Aznar, S Alonso Alvarez… - Genes & …, 2024 - nature.com
The transcription factor BCL11B plays an essential role in the development of central
nervous system and T cell differentiation by regulating the expression of numerous genes …
nervous system and T cell differentiation by regulating the expression of numerous genes …
The CBM-opathies—a rapidly expanding spectrum of human inborn errors of immunity caused by mutations in the CARD11-BCL10-MALT1 complex
HY Lu, BM Bauman, S Arjunaraja, B Dorjbal… - Frontiers in …, 2018 - frontiersin.org
The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell
CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1)[CBM] signalosome complex …
CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1)[CBM] signalosome complex …
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report
Y Yu, X Jia, H Yin, H Jiang, Y Du… - … Genetics & Genomic …, 2023 - Wiley Online Library
Abstract Background B‐Cell CLL/Lymphoma 11B (BCL11B) is a C2H2 zinc finger
transcription factor that has broad biological functions and is essential for the development …
transcription factor that has broad biological functions and is essential for the development …
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Purpose BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the
BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic …
BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic …
BCL11B-related disorder in two canadian children: Expanding the clinical phenotype
M Prasad, TB Balci, C Prasad, JD Andrews… - European Journal of …, 2020 - Elsevier
The product of the BCL11B (B-Cell Leukemia 11) gene is a bi-functional transcriptional
regulator that can act as either a repressor or an activator. It plays an important role in the …
regulator that can act as either a repressor or an activator. It plays an important role in the …
Germline CBM-opathies: from immunodeficiency to atopy
Caspase recruitment domain (CARD) protein–B cell CLL/lymphoma 10 (BCL10)–MALT1
paracaspase (MALT1)[CBM] complexes are critical signaling adaptors that facilitate immune …
paracaspase (MALT1)[CBM] complexes are critical signaling adaptors that facilitate immune …
BCL10-CARD11 fusion mimics an active CARD11 seed that triggers constitutive BCL10 oligomerization and lymphocyte activation
T Seeholzer, S Kurz, F Schlauderer, S Woods… - Frontiers in …, 2018 - frontiersin.org
Assembly of the CARD11/CARMA1-BCL10-MALT1 (CBM) signaling complex upon T or B
cell antigen receptor (TCR or BCR) engagement drives lymphocyte activation. Recruitment …
cell antigen receptor (TCR or BCR) engagement drives lymphocyte activation. Recruitment …