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

MALT1 (mucosa-associated lymphoid tissue lymphoma-translocation gene 1) is an intracellular signaling protein that activates NFκB and is crucial for both the adaptive and innate immune responses. Only 6 patients with immune deficiencies secondary to inherited mutations in the MALT1 gene have been de...

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Veröffentlicht in:	Journal of clinical immunology 2019-05, Vol.39 (4), p.401-413
Hauptverfasser:	Frizinsky, Shirly, Rechavi, Erez, Barel, Ortal, Najeeb, Rose H., Greenberger, Shoshana, Lee, Yu Nee, Simon, Amos J., Lev, Atar, Ma, Chi A., Sun, Guangping, Blackstone, Sarah A., Milner, Joshua D., Somech, Raz, Stauber, Tali
Format:	Artikel
Sprache:	eng
Schlagworte:	Autoimmunity Biomedical and Life Sciences Biomedicine CD3 antigen Cell activation Dermatitis Genetic analysis Helper cells Immunodeficiency Immunoglobulins Immunology Immunoregulation Infectious Diseases Innate immunity Interleukin 2 Internal Medicine Intracellular signalling Lymphadenopathy Lymphocytes Lymphocytes T Lymphocytosis Lymphoma MALT1 gene MALT1 protein Medical Microbiology Missense mutation Mucosa Mucosal-associated lymphoid tissue Mutation NF-κB protein Original Article Patients Phenotyping Signal transduction Stem cell transplantation T cell receptors
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