Assuntos
Aldeído Redutase , Retinopatia Diabética , Lipase , Humanos , Retinopatia Diabética/genética , Retinopatia Diabética/epidemiologia , Aldeído Redutase/genética , Lipase/genética , Masculino , Estudos Prospectivos , Feminino , França/epidemiologia , Pessoa de Meia-Idade , Idoso , Polimorfismo de Nucleotídeo ÚnicoAssuntos
Biomarcadores Tumorais/metabolismo , Linfoma , MicroRNAs/metabolismo , RNA Neoplásico/metabolismo , Neoplasias da Retina , Corpo Vítreo , Adulto , Idoso , Feminino , Humanos , Linfoma/diagnóstico , Linfoma/metabolismo , Linfoma/patologia , Masculino , Pessoa de Meia-Idade , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/metabolismo , Neoplasias da Retina/patologia , Corpo Vítreo/metabolismo , Corpo Vítreo/patologiaRESUMO
The interaction between clonally distributed inhibitory receptors and their activating counterparts on NK cells and HLA class I molecules defines NK cell functions, but the role of HLA class I ligands in the acquisition of their receptors during NK development is still unclear. Although some studies demonstrated that HLA-C affects the expression of killer Ig-like receptors (KIR), other studies showed that NK cells acquire their KIR repertoire in a stochastic manner. Only when infected with human CMV is an expansion of self-specific KIR(+) NKG2C(+) NK cells detected. To gain more insight into this question, we compared the coexpression of different KIR molecules, NKG2A, CD8, and CD57, on NK cells in healthy donors and seven patients with deficient HLA class I expression due to mutations in one of the TAP genes. Our results show a correlation between the presence/absence of HLA class I molecules and the coexpression of their receptors. In an HLA class I low-expression context, an increase in KIR molecules' coexpression is detected on the NKG2A(+) CD8(+) subset. In functional assays, hyporesponsiveness was observed for TAP-deficient NK cells derived from four patients. In contrast, NK cells from patient five were functional, whereas CD107a(+) and IFN-γ(+) CD56(dim) NK cells presented a different pattern of HLA class I receptors compared with healthy donors. Taken together, our results provide strong evidence for the role of HLA class I molecules in NK cell maturation and KIR repertoire acquisition.
Assuntos
Diferenciação Celular/imunologia , Antígenos de Histocompatibilidade Classe I/imunologia , Células Matadoras Naturais/imunologia , Receptores KIR/imunologia , Membro 2 da Subfamília B de Transportadores de Cassetes de Ligação de ATP , Transportadores de Cassetes de Ligação de ATP/deficiência , Transportadores de Cassetes de Ligação de ATP/genética , Transportadores de Cassetes de Ligação de ATP/imunologia , Adulto , Antígeno CD56/imunologia , Antígeno CD56/metabolismo , Antígenos CD57/imunologia , Antígenos CD57/metabolismo , Antígenos CD8/imunologia , Antígenos CD8/metabolismo , Diferenciação Celular/genética , Feminino , Citometria de Fluxo , Genótipo , Antígenos HLA-A/genética , Antígenos HLA-A/imunologia , Antígenos HLA-A/metabolismo , Antígenos HLA-B/genética , Antígenos HLA-B/imunologia , Antígenos HLA-B/metabolismo , Antígenos HLA-C/genética , Antígenos HLA-C/imunologia , Antígenos HLA-C/metabolismo , Antígenos de Histocompatibilidade Classe I/genética , Antígenos de Histocompatibilidade Classe I/metabolismo , Humanos , Interferon gama/imunologia , Interferon gama/metabolismo , Células Matadoras Naturais/metabolismo , Proteína 1 de Membrana Associada ao Lisossomo/imunologia , Proteína 1 de Membrana Associada ao Lisossomo/metabolismo , Masculino , Pessoa de Meia-Idade , Mutação , Subfamília C de Receptores Semelhantes a Lectina de Células NK/imunologia , Subfamília C de Receptores Semelhantes a Lectina de Células NK/metabolismo , Receptores KIR/genética , Receptores KIR/metabolismoRESUMO
PURPOSE: To demonstrate the importance of collaboration between ophthalmologists and internists. DESIGN: Cryoglobulinemia is a systemic vascularite. Ophthalmologic complications are rare and not well known. Purtscher-like retinopathy may occur in this context. CASE REPORT: We report the case of a patient who presented a severe visual loss in the course of a hepatitis C. The ophthalmic examination shows a both ischemic and hemorrhagic bilateral retinopathy called Purtscher-like retinopathy. Cryoglobulinemia complicating a hepatitis C was discovered in our patient. CONCLUSIONS: This case illustrates a cryoglobulinemia complicating by a Purtscher-like retinopathy. The diagnosis has been possible thanks to collaboration between ophthalmologists and internists. We propose a few hypotheses to explain retinopathy pathogeny.