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Naturally occurring T cell mutations enhance engineered T cell therapies.
Garcia J, Daniels J, Lee Y, Zhu I, Cheng K, Liu Q, Goodman D, Burnett C, Law C, Thienpont C, Alavi J, Azimi C, Montgomery G, Roybal KT, Choi J. Garcia J, et al. Nature. 2024 Feb;626(7999):626-634. doi: 10.1038/s41586-024-07018-7. Epub 2024 Feb 7. Nature. 2024. PMID: 38326614 Free PMC article.
Here we systematically screened the effects of 71 mutations from T cell neoplasms on T cell signalling, cytokine production and in vivo persistence in tumours. We identify a gene fusion, CARD11-PIK3R3, found in a CD4(+) cutaneous T cell lymphoma(2), that augments CARD11
Here we systematically screened the effects of 71 mutations from T cell neoplasms on T cell signalling, cytokine production and in vivo pers …
Hyper IgE Syndromes.
Gracci S, Novelli T, D'Elios S, Bernardini R, Peroni D. Gracci S, et al. Curr Pediatr Rev. 2024;20(3):253-264. doi: 10.2174/1573396320666230912103124. Curr Pediatr Rev. 2024. PMID: 37702167
In addition to long-known STAT3 and DOCK8 gene mutations, in fact, also ZNF341, CARD11, ERBB2IP, IL6R and IL6ST genes mutations can cause the disease. The main clinical manifestations are represented by newborn rash, eczema similar to atopic dermatitis, bacterial and viral …
In addition to long-known STAT3 and DOCK8 gene mutations, in fact, also ZNF341, CARD11, ERBB2IP, IL6R and IL6ST genes mutations can c …
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O, Gruber C, Randolph HE, Patel R, Ramba M, Calzoni E, Huang LH, Levy J, Buta S, Lee A, Sazeides C, Prue Z, Hoytema van Konijnenburg DP, Chinn IK, Pedroza LA, Lupski JR, Schmitt EG, Cooper MA, Puel A, Peng X, Boisson-Dupuis S, Bustamante J, Okada S, Martin-Fernandez M, Orange JS, Casanova JL, Milner JD, Bogunovic D. Stewart O, et al. Nature. 2025 Jan;637(8048):1186-1197. doi: 10.1038/s41586-024-08346-4. Epub 2025 Jan 1. Nature. 2025. PMID: 39743591 Free PMC article.
Allelic expression bias was also documented in phenotypically discordant family members with mutations in STAT1 and CARD11. This study highlights the importance of considering both the genotype and the 'transcriptotype' in analyses of the penetrance and expressivity of mon …
Allelic expression bias was also documented in phenotypically discordant family members with mutations in STAT1 and CARD11. This stud …
CARD11 signaling regulates CD8(+) T cell tumoricidal function.
Hu Y, Zhao Q, Qin Y, Mei S, Wang B, Zhou H, Han L, Zang Y, Yao L, He Z, Li Y, Li H, Zhang P, Zhang Y, Lenardo MJ, Lu W. Hu Y, et al. Nat Immunol. 2025 Jul;26(7):1113-1126. doi: 10.1038/s41590-025-02192-w. Epub 2025 Jun 18. Nat Immunol. 2025. PMID: 40533509
Here, we show an inverse correlation between signal strength and T(ex) cell differentiation by using patient-derived mutations in the T cell receptor (TCR)-signaling protein CARD11. Strong TCR signaling of the E134G mutant inhibits T(ex) cell differentiation and increases …
Here, we show an inverse correlation between signal strength and T(ex) cell differentiation by using patient-derived mutations in the T cell …
Enforced CARD11/MALT1 signaling in dendritic cells triggers hemophagocytic lymphohistiocytosis.
Isay SE, Vornholz L, Schnalzger T, Groll T, Magg T, Loll P, Weirich G, Steiger K, Hauck F, Ruland J. Isay SE, et al. Proc Natl Acad Sci U S A. 2024 Dec 17;121(51):e2413162121. doi: 10.1073/pnas.2413162121. Epub 2024 Dec 11. Proc Natl Acad Sci U S A. 2024. PMID: 39661061 Free PMC article.
Given that CARD11 is physiologically expressed not only in lymphocytes but also in dendritic cells (DCs), we explored whether enforced CARD11 signaling in DCs contributes to immunopathology. ...Genetic deletion of Malt1 in CARD11-GOF-expressing animals revers …
Given that CARD11 is physiologically expressed not only in lymphocytes but also in dendritic cells (DCs), we explored whether enforce …
From syndromic clues to diagnosis: understanding CARD11-driven disorders.
García-Martínez E, Schiaffino MT, Di Natale M, Díaz Luna MLM, Viteri Álvarez DA, Mejía González MA. García-Martínez E, et al. Front Immunol. 2025 Jun 23;16:1626065. doi: 10.3389/fimmu.2025.1626065. eCollection 2025. Front Immunol. 2025. PMID: 40625738 Free PMC article. Review.
CARD11 is primarily expressed in hematopoietic tissues and lymphocytes and plays a crucial role in the proper activation of B and T cells in response to antigen recognition. Pathogenic variants in the CARD11 gene result in a broad spectrum of syndromic immunodeficie
CARD11 is primarily expressed in hematopoietic tissues and lymphocytes and plays a crucial role in the proper activation of B and T c
BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review.
Baldini L, Keller B, Dewitte L, Passarelli C, Ginevrino M, Carli D, Montin D, Bossuyt X, Warnatz K, Licciardi F. Baldini L, et al. Immunol Lett. 2025 Oct;275:107005. doi: 10.1016/j.imlet.2025.107005. Epub 2025 Mar 27. Immunol Lett. 2025. PMID: 40157432
INTRODUCTION: The CARD11 (Caspase Recruitment Domain Family Member 11) gene encodes a scaffold protein critical for NF-kappaB signaling, regulating B-cell differentiation and T-cell effector functions. ...CONCLUSION: We identified …
INTRODUCTION: The CARD11 (Caspase Recruitment Domain Family Member 11) gene encodes a scaff …
Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Schmitz EG, Paul AJ, Ghosh R, Saucier N, Kolicheski A, Risma SI, McDaniels KP, Liu M, Lewis KL, de Jesus AA, Alehashemi S, Fronick CC, Stein D, Dominguez D, Hiraki LT, Lee JH, Norman S, Peng CR, Ward BR, Pettiford LH, Platt A, Lawrence MG, Rocco JM, Al-Herz W, Zerbe CS, Atkinson TP, Peng XP, Allenspach EJ, Hoytema van Konijnenburg DP, Platt CD, Elkins M, Walter JE, Bleesing JJ, Klion A, Ramaswami R, Uzel G, Lionakis MS, Dissanayake D, Su HC, Cortese I, Fuss IJ, Bergerson JRE, Dropulic L, Sereti I, Lisco A, Itan Y, Milner JD, Bogunovic D, Goldbach-Mansky R, Rao VK, Delmonte OM, Notarangelo LD, Keller MD, Durkee-Shock J, Cohen JI, Similuk MN, Holland SM, Griffith M, Griffith OL, Vogel TP, Canna S, Freeman AF, Walkiewicz MA, Cooper MA. Schmitz EG, et al. J Allergy Clin Immunol. 2026 May;157(5):1179-1194. doi: 10.1016/j.jaci.2026.01.023. Epub 2026 Feb 5. J Allergy Clin Immunol. 2026. PMID: 41654260 Free PMC article.
Genes with mosaicism in >1 affected undiagnosed patients included FAS, STAT3, CARD11, CARD14, NRAS, TNFAIP3, NLRP3, and IKZF2. Four patients had variants in FAS with allele fractions <5% in blood but highly enriched in double-negative T cells, diagnostic for somatic …
Genes with mosaicism in >1 affected undiagnosed patients included FAS, STAT3, CARD11, CARD14, NRAS, TNFAIP3, NLRP3, and IKZF2. Fou …
LUBAC modulates CBM complex functions downstream of TRAF6 in T cells.
Graß C, Ober F, Sixt C, Moud BN, Antoshkina I, Eberstadt F, Puhach A, Avar G, Keßler A, O'Neill TJ, Seeholzer T, Kranich J, Brocker T, Lammens K, Menden MP, Zielinski CE, Krappmann D. Graß C, et al. Nat Commun. 2025 Nov 10;16(1):9899. doi: 10.1038/s41467-025-65879-6. Nat Commun. 2025. PMID: 41213928 Free PMC article.
The CARD11-BCL10-MALT1 (CBM) complex drives NF-kappaB signaling and MALT1 protease activation after T cell receptor (TCR) stimulation, forming a central signaling hub in adaptive immunity. ...
The CARD11-BCL10-MALT1 (CBM) complex drives NF-kappaB signaling and MALT1 protease activation after T cell receptor (TCR) stimulation …
Transcriptome Profiling Associated with CARD11 Overexpression in Colorectal Cancer Implicates a Potential Role for Tumor Immune Microenvironment and Cancer Pathways Modulation via NF-kappaB.
Alhosani F, Ilce BY, Alhamidi RS, Bhamidimarri PM, Hamad AM, Alkhayyal N, Künstner A, Khandanpour C, Busch H, Al-Ramadi B, Sayed K, AlFazari A, Bendardaf R, Hamoudi R. Alhosani F, et al. Int J Mol Sci. 2024 Sep 26;25(19):10367. doi: 10.3390/ijms251910367. Int J Mol Sci. 2024. PMID: 39408697 Free PMC article.
This study aims to elucidate how CARD11 overexpression exacerbates the prognosis of colorectal cancer (CRC). To identify the cellular pathways influenced by CARD11, transcriptomic analysis in both CRC cell lines and patients was carried out on CARD11- overexp …
This study aims to elucidate how CARD11 overexpression exacerbates the prognosis of colorectal cancer (CRC). To identify the cellular …
47 results