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 …
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 …
Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency
Background Germline pathogenic variants impairing the caspase recruitment domain family
member 11 (CARD11)–B cell chronic lymphocytic leukemia/lymphoma 10 (BCL10)–MALT1 …
member 11 (CARD11)–B cell chronic lymphocytic leukemia/lymphoma 10 (BCL10)–MALT1 …
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy
The discovery of humans with monogenic disorders has a rich history of generating new
insights into biology. Here we report the first human identified with complete deficiency of …
insights into biology. Here we report the first human identified with complete deficiency of …
Mistuned NF-κB signaling in lymphocytes: lessons from relevant inborn errors of immunity
G Dabbah-Krancher, AL Snow - Clinical and Experimental …, 2023 - academic.oup.com
Inborn errors of immunity (IEIs) continuously remind us that multiple checks and balances
are built into the adaptive immune system to maintain homeostasis, ensuring effective …
are built into the adaptive immune system to maintain homeostasis, ensuring effective …
based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's …
L del Pino-Molina, LY Bravo Gallego… - Frontiers in …, 2023 - frontiersin.org
Introduction Inborn errors of immunity (IEI) are an expanding group of rare diseases whose
field has been boosted by next-generation sequencing (NGS), revealing several new …
field has been boosted by next-generation sequencing (NGS), revealing several new …
Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy
Discovery of humans with monogenic disorders has a rich history of generating new insights
into biology. Here we report the first human identified with complete deficiency of nuclear …
into biology. Here we report the first human identified with complete deficiency of nuclear …
Achromobacter xylosoxidans Pneumonia in a Young Child with Chronic Granulomatous Disease—a Case-Based Review
PK Patra, AZ Banday, R Sadanand, B Sharma… - Journal of Clinical …, 2021 - Springer
Discussion Achromobacter sp. are a group of Gram-negative, catalase-positive, aerobic, non-
spore-forming motile bacteria that are commonly found in wet environments, mainly in water …
spore-forming motile bacteria that are commonly found in wet environments, mainly in water …
[PDF][PDF] based flo c tometr assa s for pathogenic assessment in the human B-cell biolog of gene ariants re ealed in the diagnosis of inborn errors of immunit: a Bruton's t …
B González Martínez, E López Granados - 2023 - scholarlypublications …
Methods: Research laboratories that diagnose and provide support for IEI require accurate,
reproducible and sustainable phenotypic, cellular and molecular functional assays to …
reproducible and sustainable phenotypic, cellular and molecular functional assays to …
[PDF][PDF] Defining the pathogenesis of human inborn errors of immunity affecting the CARD11-BCL10-MALT1 complex
YCH Lu - 2020 - open.library.ubc.ca
Primary immunodeficiency diseases or inborn errors of immunity are a group of rare genetic
disorders in which key elements of the immune system are absent or dysfunctional. This …
disorders in which key elements of the immune system are absent or dysfunctional. This …