Naturally occurring primary deficiencies of the immune system.

@article{Fischer1997NaturallyOP,
  title={Naturally occurring primary deficiencies of the immune system.},
  author={Alain Fischer and Marina Cavazzana‐Calvo and Genevi{\`e}ve de Saint Basile and J P Devillartay and James P. Di Santo and Claire Hivroz and Fr{\'e}d{\'e}ric Rieux-Laucat and Françoise Le Deist},
  journal={Annual review of immunology},
  year={1997},
  volume={15},
  pages={
          93-124
        }
}
Naturally occurring genetic disorders of the immune system provide many models for the study of its development and function. In a way, their analysis complements the information provided by the generation of genetic defects in mice created using homologous recombination techniques. In this review, the recent findings made in three areas are focused upon deficiencies in T cell differentiation and in T lymphocyte activation, and on the control process of peripheral immune response. 
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References

SHOWING 1-10 OF 242 REFERENCES
The primary immunodeficiencies.
Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells
TLDR
The increased numbers of phenotypically normal T cells in this patient suggest that alternative pathways of T cell development exist in man or that IL-2 production intra- and extrathymically is controlled via distinct regulatory mechanisms.
Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor.
PRIMARY immunodeficiency diseases are a heterogeneous group of disorders resulting from intrinsic defects of the immune system.1 They are frequently associated with repeated bacterial, fungal, or v...
T lymphocyte receptor deficiencies.
Genetically determined murine models of immunodeficiency.
TLDR
These experiments performed by nature provide a valuable resource for investigating the immune system in normal and pathologic states and will provide additional insight into mechanisms underlying normal immune function as well as immunologic disease processes in man.
Severe combined immunodeficiency due to a specific defect in the production of interleukin-2.
TLDR
Together, the X-linked and adenosine deaminase—deficient forms of SCID account for approximately 40 to 50 percent of all cases.
Autoimmunity: The Fas track
Clinical, immunological, and pathological consequences of Fas-deficient conditions
Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis
TLDR
The Ipr mice develop lymphadenopathy and suffer from a systemic lupus erythematosus-like autoimmune disease, indicating an important role for Fas antigen in the negative selection of autoreactive T cells in the thymus.
Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting
TLDR
It is found that mice homozygous for the IL-2 gene mutation are normal with regard to thymocyte and peripheral T-cell subset composition, but that a dysregulation of the immune system is manifested by reduced polyclonal in vitro T- cell responses and by dramatic changes in the isotype levels of serum immunoglobulins.
...
1
2
3
4
5
...