Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect
| Autor: | Irini Sereti, Roshini S. Abraham, Stephen A. Migueles, Alina Dulau-Florea, Mark Connors, Amy P. Hsu, Chun-Shu Wong, Princess U. Ogbogu, Peiying Ye, Megan Anderson, Clarisa M. Buckner, Adam Rupert, Susan Moir, Luxin Pei, Luigi D. Notarangelo, Emily M. Mace, Addison J. Ward, Jordan S. Orange, Andrea Lisco, Silvia Lucena Lage, Dylan T. Timberlake, Stefania Pittaluga |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proband CD4-Positive T-Lymphocytes Male Primary Immunodeficiency Diseases Mutation Missense Codon Initiator Biology CD4 deficiency Lymphocyte Activation Monocytes 03 medical and health sciences Young Adult Editorial Commentaries 0302 clinical medicine Bone Marrow Ileum T-Lymphocyte Subsets medicine Immunology and Allergy Humans double negative T-cell Peptide Chain Initiation Translational Gene Lymph node Immunologic Deficiency Syndromes Germinal center Gene Abnormality Translation (biology) Keywords Immunity Innate Pedigree Killer Cells Natural Editor's Choice 030104 developmental biology Infectious Diseases medicine.anatomical_structure AcademicSubjects/MED00290 CD4 T-cell CD4 Antigens Cancer research Cytokines Female genetic disorder Bone marrow Lymph Nodes CD8 030215 immunology |
| Zdroj: | The Journal of Infectious Diseases |
| ISSN: | 1537-6613 |
| Popis: | CD4 expression identifies a subset of mature T cells primarily assisting the germinal center reaction and contributing to CD8+ T-cell and B-cell activation, functions, and longevity. Herein, we present a family in which a novel variant disrupting the translation-initiation codon of the CD4 gene resulted in complete loss of membrane and plasma soluble CD4 in peripheral blood, lymph node, bone marrow, skin, and ileum of a homozygous proband. This inherited CD4 knockout disease illustrates the clinical and immunological features of a complete deficiency of any functional component of CD4 and its similarities and differences with other clinical models of primary or acquired loss of CD4+ T cells. The first inherited loss of any functional component of CD4, including soluble CD4, is clinically distinct from any other congenital or acquired CD4 T-cell defect and characterized by compensatory changes in T-cell subsets and functional impairment of B cells, monocytes, and natural killer cells. |
| Databáze: | OpenAIRE |
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