Abstract
Human germline MALT1 deficiency is an inborn error of immunity characterized by recurrent bacterial, viral, and fungal infections, periodontal disease, enteropathy, dermatitis, and failure to thrive. The number of identified MALT1-deficient patients have greatly increased in the past two years, which has significantly improved our understanding of the clinical features of this disorder. Patients frequently experience infections affecting the respiratory, skin, gastrointestinal, and blood systems. The most frequently detected pathogens are Staphylococcus aureus, Candida albicans, and cytomegalovirus. Enhanced susceptibility to S. aureus and C. albicans is likely due to impaired Th17 immunity, similar to STAT3 and IL-17 pathway deficiencies.
Copyright © 2021 Elsevier Ltd. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Alleles
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Animals
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Cytokines / metabolism
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Genetic Predisposition to Disease*
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Genotype
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Host-Pathogen Interactions / genetics
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Host-Pathogen Interactions / immunology
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Humans
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Immunologic Deficiency Syndromes / complications
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Immunologic Deficiency Syndromes / genetics
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Immunologic Deficiency Syndromes / immunology
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Infections / diagnosis
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Infections / etiology*
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Infections / metabolism
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Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein / deficiency*
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Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein / genetics
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Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein / metabolism
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Mutation
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Organ Specificity / genetics
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Organ Specificity / immunology
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T-Lymphocyte Subsets / immunology
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T-Lymphocyte Subsets / metabolism
Substances
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Cytokines
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MALT1 protein, human
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Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein
Supplementary concepts
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Immune Deficiency Disease