Varaico: Literature-Extracted Genetic Variants

Gene:MALT1
Variant:p.W580S
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MALT1

NM_006785.4:p.W580S

Associated Papers

Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights.

Tian Z et al.

Journal of Clinical Immunology, 2025

The role of the CBM complex in allergic inflammation and disease.

DeVore SB et al.

The Journal of Allergy and Clinical Immunology, 2022

Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.

Sefer AP et al.

Journal of Clinical Immunology, 2022

Progressive B cell depletion in human MALT1 deficiency.

Sonoda M et al.

Clinical and Experimental Immunology, 2021

Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant.

Kutukculer N et al.

The Journal of Allergy and Clinical Immunology, 2021

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.

Frizinsky S et al.

Journal of Clinical Immunology, 2019

An allosteric MALT1 inhibitor is a molecular corrector rescuing function in an immunodeficient patient.

Quancard J et al.

Nature Chemical Biology, 2019

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

Charbit-Henrion F et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

The paracaspase MALT1 cleaves HOIL1 reducing linear ubiquitination by LUBAC to dampen lymphocyte NF-κB signalling.

Klein T et al.

Nature Communications, 2015

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.

Pérez de Diego R et al.

The Journal of Allergy and Clinical Immunology, 2015

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.

Punwani D et al.

Journal of Clinical Immunology, 2015

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.

Turvey SE et al.

The Journal of Allergy and Clinical Immunology, 2014

Combined immunodeficiency associated with homozygous MALT1 mutations.

McKinnon ML et al.

The Journal of Allergy and Clinical Immunology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."