Severe combined immunodeficiencies, primary T-cell defects and DiGeorge syndrome in humans: Characterization by monoclonal antibodies and natural killer cell activity

Sirianni, Maria Caterina; Businco, L; Seminara, R.; Aiuti, F

doi:10.1016/0090-1229(83)90103-4

Cited by 31 publications

(8 citation statements)

References 14 publications

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“…About half of the patients with Wiskott-Aldrich syndrome have normal NK cell activity against K562 target cells, but all of these patients have severely depressed NK cell activity against virus-infected target cells, despite normal IFN-a titers (405). Some patients with SCID show a depressed NK cell activity and some display normal or augmented activity (95, 399,404,405,[408][409][410][411]. In SCID patients with elevated NK cell activity, most circulating lymphocytes have the characteristics of Cllb+ LGLs (409-411).…”

Section: Congenital Defects Of Nk Cellsmentioning

confidence: 99%

Biology of Natural Killer Cells

Trinchieri

1989

Advances in Immunology

2,687

1,717

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Section: Congenital Defects Of Nk Cellsmentioning

confidence: 99%

Biology of Natural Killer Cells

Trinchieri

1989

Advances in Immunology

2,687

1,717

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“…With regard to the former, it is well known that CD34 + HPCs with NK cell differentiation potential normally exist in the thymus (17, 43). However, the overwhelming majority of these cells are induced by the thymic environment toward T‐cell differentiation and any potential physiological importance of the thymus in promoting normal NK cell development has not yet been established, because athymic mice and humans have functionally competent NK cells (125–128). It is also clear that pro‐, pre‐, iNK, CD56 bright , and CD56 dim NK cells can each be found in human BM and blood (19, 27, 44, unpublished data).…”

Section: Sites Of Human Nk Cell Developmentmentioning

confidence: 99%

Human natural killer cell development

Freud

Caligiuri

2006

Immunological Reviews

416

417

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Our understanding of human natural killer (NK) cell development lags far behind that of human B- or T-cell development. Much of our recent knowledge of this incomplete picture comes from experimental animal models that have aided in identifying fundamental in vivo processes, including those controlling NK cell homeostasis, self-tolerance, and the generation of a diverse NK cell repertoire. However, it has been difficult to fully understand the mechanistic details of NK cell development in humans, primarily because the in vivo cellular intermediates and microenvironments of this developmental pathway have remained elusive. Although there is general consensus that NK cell development occurs primarily within the bone marrow (BM), recent data implicate secondary lymphoid tissues as principal sites of NK cell development in humans. The strongest evidence stems from the observation that the newly described stages of human NK cell development are naturally and selectively enriched within lymph nodes and tonsils compared with blood and BM. In the current review, we provide an overview of these recent findings and discuss these in the context of existing tenets in the field of lymphocyte development.

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“…Similarly to the phenotypic features, a variable degree of immunologic defects exists in patients with del22q11.2 syndrome [9–13]. The characteristic immunodeficiency is a mild‐to‐moderate defect in T‐cell count [8].…”

Section: Introductionmentioning

confidence: 99%

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Pierdominici

Mazzetta

Caprini³

et al. 2003

Clinical and Experimental Immunology

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SUMMARYChromosome 22q11.2 deletion ( del22q11.2 ) syndrome (DiGeorge syndrome/velocardiofacial syndrome) is a common syndrome typically consisting of congenital heart disease, hypoparathyroidism, developmental delay and immunodeficiency. Although a broad range of immunologic defects have been described in these patients, limited information is currently available on the diversity of the T-cell receptor (TCR) variable b (BV) chain repertoire. The TCRBV repertoires of nine patients with del22q11.2 syndrome were determined by flow cytometry, fragment size analysis of the third complementarity determining region (CDR3 spectratyping) and sequencing of V(D)J regions. The rate of thymic output and the phenotype and function of peripheral T cells were also studied. Expanded TCRBV families were detected by flow cytometry in both CD4 + and CD8 + T cells. A decreased diversity of TCR repertoires was also demonstrated by CDR3 spectratyping, showing altered CDR3 profiles in the majority of TCRBV families investigated. The oligoclonal nature of abnormal peaks detected by CDR3 spectratyping was confirmed by the sequence analysis of the V(D)J regions. Thymic output, evaluated by measuring TCR rearrangement excision circles (TRECs), was significantly decreased in comparison with age-matched controls. Finally, a significant up-regulation in the percentage, but not in the absolute count, of activated CD4 + T cells (CD95 + , CCR5 + , HLA-DR + ), IFN-g -and IL-2-expressing T cells was detected. These findings suggest that the diversity of CD4 and CD8 TCRBV repertoires is decreased in patients with del22q11.2 syndrome, possibly as a result of either impaired thymic function and/or increased T-cell activation.

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Severe combined immunodeficiencies, primary T-cell defects and DiGeorge syndrome in humans: Characterization by monoclonal antibodies and natural killer cell activity

Cited by 31 publications

References 14 publications

Biology of Natural Killer Cells

Biology of Natural Killer Cells

Human natural killer cell development

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

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