ArticleJournal of clinical immunology2015
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Article in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 97 citations in OpenAlex.
- Mechanistic Insights Into Immune Cell Dysregulation Mediated by Novel Heterozygous Variants in CARD11 and MALT1.Journal of clinical immunology · 2026Article
- C-terminal Fragment Generated by HOIL-1 Cleavage Suppresses Inflammatory Responses of Myeloid Cells to Alleviate Colitis.Theranostics · 2026Article
- Running on Empty Signals: What Human MALT1 Deficiency Reveals About Immune Control.Journal of immunology research · 2026Review
- Loss of MALT1 Function in a Patient With Combined Immunodeficiency: a Novel Pathogenic Variant and Immunological Insights.Journal of clinical immunology · 2025Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Atopic dermatitis, primary atopic disorders, and the cutaneous microbiome: current understanding of an expanding field.Frontiers in pediatrics · 2025Review
- Get Spliced: Uniting Alternative Splicing and Arthritis.International journal of molecular sciences · 2024Review
- The COP9 signalosome stabilized MALT1 promotes Non-Small Cell Lung Cancer progression through activation of NF-κB pathway.Cell biology and toxicology · 2024Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations inAutophagy · 2023Article
- Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement.Frontiers in pediatrics · 2023Review
- The role of the CBM complex in allergic inflammation and disease.The Journal of allergy and clinical immunology · 2022Review
- NF-κB in control of regulatory T cell development, identity, and function.Journal of molecular medicine (Berlin, Germany) · 2022Review
- CARD11 signaling in regulatory T cell development and function.Advances in biological regulation · 2022Review
- Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.Journal of clinical immunology · 2022Article
- Inborn Errors of the Immune System Associated With Atopy.Frontiers in immunology · 2022Review
- Targeting MALT1 Suppresses the Malignant Progression of Colorectal CancerFrontiers in cell and developmental biology · 2022Article
- New Insights and Advances in Pathogenesis and Treatment of Very Early Onset Inflammatory Bowel Disease.Frontiers in pediatrics · 2022Review
- Progressive B cell depletion in human MALT1 deficiency.Clinical and experimental immunology · 2021Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
purposeA male infant developed generalized rash, intestinal inflammation and severe infections including persistent cytomegalovirus. Family history was negative, T cell receptor excision circles were normal, and engraftment of maternal cells was absent. No defects were found in multiple genes associated with severe combined immunodeficiency. A 9/10 HLA matched unrelated hematopoietic cell transplant (HCT) led to mixed chimerism with clinical resolution. We sought an underlying cause for this patient's immune deficiency and dysregulation.
methodsClinical and laboratory features were reviewed. Whole exome sequencing and analysis of genomic DNA from the patient, parents and 2 unaffected siblings was performed, revealing 2 MALT1 variants. With a host-specific HLA-C antibody, we assessed MALT1 expression and function in the patient's post-HCT autologous and donor lymphocytes. Wild type MALT1 cDNA was added to transformed autologous patient B cells to assess functional correction.
resultsThe patient had compound heterozygous DNA variants affecting exon 10 of MALT1 (isoform a, NM_006785.3), a maternally inherited splice acceptor c.1019-2A > G, and a de novo deletion of c.1059C leading to a frameshift and premature termination. Autologous lymphocytes failed to express MALT1 and lacked NF-κB signaling dependent upon the CARMA1, BCL-10 and MALT1 signalosome. Transduction with wild type MALT1 cDNA corrected the observed defects.
conclusionsOur nonconsanguineous patient with early onset profound combined immunodeficiency and immune dysregulation due to compound heterozygous MALT1 mutations extends the clinical and immunologic phenotype reported in 2 prior families. Clinical cure was achieved with mixed chimerism after nonmyeloablative conditioning and HCT.
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