Deficiency in Mucosa‐associated Lymphoid Tissue Lymphoma Translocation 1

Charbit‐Henrion, Fabienne; Jeverica, Anja Koren; Bègue, Bernadette; Markelj, Gašper; Parlato, Marianna; Avčin, Simona Lucija; Callebaut, Isabelle; Bras, Marc; Parisot, Mélanie; Jazbec, Janez; Homan, Matjaž; Ihan, Alojz; Rieux-Laucat, Frédéric; Stolzenberg, Marie-Claude; Ruemmele, Frank M; Avčin, Tadej; Cerf‐Bensussan, Nadine

doi:10.1097/mpg.0000000000001262

Cited by 66 publications

(60 citation statements)

References 20 publications

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“…Patients with inactivating MALT1 mutations develop immunodeficiency (91–93) or immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX)-like syndrome (94). Patients with an oncogenic activation of the MALT1 signaling pathway, on the other hand, develop lymphoid malignancies or lymphoproliferative disease (Figures 1,4) (95, 96).…”

Section: Malt1 Deregulation Is Associated With Immunodeficiency and Lmentioning

confidence: 99%

Holding All the CARDs: How MALT1 Controls CARMA/CARD-Dependent Signaling

Juilland

Thome

2018

Front. Immunol.

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The scaffold proteins CARMA1-3 (encoded by the genes CARD11, -14 and -10) and CARD9 play major roles in signaling downstream of receptors with immunoreceptor tyrosine activation motifs (ITAMs), G-protein coupled receptors (GPCR) and receptor tyrosine kinases (RTK). These receptors trigger the formation of oligomeric CARMA/CARD-BCL10-MALT1 (CBM) complexes via kinases of the PKC family. The CBM in turn regulates gene expression by the activation of NF-κB and AP-1 transcription factors and controls transcript stability. The paracaspase MALT1 is the only CBM component having an enzymatic (proteolytic) activity and has therefore recently gained attention as a potential drug target. Here we review recent advances in the understanding of the molecular function of the protease MALT1 and summarize how MALT1 scaffold and protease function contribute to the transmission of CBM signals. Finally, we will highlight how dysregulation of MALT1 function can cause pathologies such as immunodeficiency, autoimmunity, psoriasis, and cancer.

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Section: Malt1 Deregulation Is Associated With Immunodeficiency and Lmentioning

confidence: 99%

Holding All the CARDs: How MALT1 Controls CARMA/CARD-Dependent Signaling

Juilland

Thome

2018

Front. Immunol.

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“…TNF, IL-2, or pro-Th17 cytokines) and antigen presentation [77,78]. Patients with AR BCL10 [79] or MALT1 [80–83] deficiency have not been reported to display invasive fungal infections, suggesting that there may be additional molecular pathways involved in protection against such diseases. A new signaling axis, in which CARD9 interacts with Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1) to recruit V-Ha-Ras Harvey rat sarcoma viral oncogene homolog (H-RAS) for downstream extracellular signal-regulated kinase (ERK) activation, was recently characterized in mice [84].…”

Section: Invasive Fungal Diseases: Inborn Errors Of Card9 Immunitymentioning

confidence: 99%

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals

Vinh

Casanova³

et al. 2017

Current Opinion in Microbiology

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It has been estimated that there are at least 1.5 million fungal species, mostly present in the environment, but only a few of these fungi cause human disease. Most fungal diseases are self-healing and benign, but some are chronic or life-threatening. Acquired and inherited defects of immunity, including breaches of mucocutaneous barriers and circulating leukocyte deficiencies, account for most severe modern-day mycoses. Other types of infection typically accompany these fungal infections. More rarely, severe fungal diseases can strike otherwise healthy individuals. Historical reports of fungi causing chronic peripheral (e.g. affecting the nails, skin, hair) infections, and invasive disease (e.g. brain, lungs, liver), in otherwise healthy patients, can be traced back to the mid-20th century. These fungi typically cause endemic, but not epidemic diseases, are more likely to underlie sporadic than familial cases, and only threaten a small proportion of infected individuals. The basis of this “idiosyncratic” susceptibility has long remained unexplained, but it has recently become apparent that “idiopathic” fungal diseases, in children, teenagers, and even adults, may be caused by single-gene inborn errors of immunity. The study of these unusual primary immunodeficiencies (PIDs) has led to the identification of molecules and cells playing a crucial role in human host defenses against certain fungi at particular anatomic sites. A picture is emerging of inborn errors of IL-17 immunity selectively underlying chronic mucocutaneous candidiasis, with little inter-individual variability, and of inborn errors of CARD9 immunity underlying various life-threatening invasive fungal diseases, differing between patients.

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“…Although mutations in all 3 CBM signalosome proteins have been described, HSCT has only been reported between 2013 and 2016 in 6 patients with MALT1 and CARD11 mutations (Greil et al 2013;Stepensky et al 2013;Punwani et al 2015;Charbit-Henrion et al 2016;Rozmus et al 2016). A summary of patient characteristics can be found in Table 7.…”

Section: Card11-bcl10-malt1 Complex Immunodeficiencymentioning

confidence: 99%

Hematopoietic stem cell transplantations for primary immune deficiencies associated with NFκB mutations: A review of the literature

Scott

Grunebaum

2017

LymphoSign Journal

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The nuclear factor kappa-light-chain-enhancer of activated B-cells (NFκB) family of transcription factors plays an instrumental role in human immunity and lymphoid organ development. Inherited defects affecting these factors or their regulation are associated with increased susceptibility to infections, as well as non-immune abnormalities. Hematopoietic stem cell transplantations (HSCT) have been shown to correct the immune abnormalities in a few patients with NFκB pathway defects. Here we review the pre-HSCT characteristics, as well as the HSCT and outcome of 35 patients who received HSCT for NFκB defects. Twenty-three patients (65.7%) were reported to have survived HSCT. Survival was higher among patients with X-linked ectodermal dysplasia and immunodeficiency (XL-EDA-ID), and those with CARD11-BCL10-MALT1 (CBM) complex defects, in comparison to patients with autosomal dominant ectodermal dysplasia and immunodeficiency (AD-EDA-ID) and IKBKB defects. Survival following myeloablative conditioning was similar to that after reduced intensity conditioning, although donor cells engraftment and immune reconstitution after HSCT was not complete in some patients. The effects of HSCT on organ dysfunction associated with NFκB defects, such as liver toxicity or bowel inflammation, are still not clear. Earlier identification and transplantation of affected patients, as well as better understanding of the pathogenesis and complications of the different NFκB mutations, might improve outcome of HSCT for specific patient populations. Statement of novelty:This review highlights the current indications, regimens, and outcome of HSCT for inherited defects involving various components of the canonical and non-canonical NFκB pathways.

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Deficiency in Mucosa‐associated Lymphoid Tissue Lymphoma Translocation 1

Cited by 66 publications

References 20 publications

Holding All the CARDs: How MALT1 Controls CARMA/CARD-Dependent Signaling

Holding All the CARDs: How MALT1 Controls CARMA/CARD-Dependent Signaling

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals

Hematopoietic stem cell transplantations for primary immune deficiencies associated with NFκB mutations: A review of the literature

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