A severe combined immunodeficiency mutation in the mouse

  title={A severe combined immunodeficiency mutation in the mouse},
  author={Gayle C. Bosma and R. Philip Custer and Melvin J. Bosma},
The most debilitating human lymphoid deficiency disease, known as severe combined immunodeficiency (SCID), impairs the differentiation of both T and B lymphocytes1–7. Affected infants are highly susceptible to recurring infections of viruses, fungi and bacteria and invariably die within 2yr of birth. Inheritance of this congenital syndrome may show X-linked8,9 or autosomal recessive control1,2,9. To date autosomal recessive inheritance of SCID has been observed in Arabian foals10 which… 
Human Humoral Immunity in SCID Mice
Characteristics of SCID mice reconstituted with human lymphoid cells, mainly hu-PBL-SCID mice, are described, with emphasis on parameters which may be relevant to humoral immunity.
Metabolic defects in severe combined immunodeficiency in man and animals.
  • N. Magnuson, L. Perryman
  • Biology, Medicine
    Comparative biochemistry and physiology. B, Comparative biochemistry
  • 1986
Two animal models for SCID now exist and neither of these models is associated with ADA deficiency, which indicates that SCID is a heterogeneous group of diseases that are clinically similar but are caused by quite different biochemical abnormalities.
X-linked severe combined immunodeficiency in the dog.
The disease in the dog is characterized by growth retardation and increased susceptibility to bacterial and viral infections in young pups, supported by the failure of peripheral lymphocytes to produce IgG or IgA plaque-forming cells in response to polyclonal activation.
Equine Severe Combined Immunodeficiency Av
Severe Combined Immunodeficiency (SCID) is a disease with a genetic background in Arabian horses and crossbreeds with Arabians. The disease has been known and documented since the 1970’s and was
Equine severe combined immunodeficiency
The question whether heterozygotes should be allowed in breeding or not should be decided while considering the population size and the frequency of carriers, because the total population of Arabian horses in Sweden is large enough to exclude carriers from breeding.
Pneumocystis carinii pneumonia in scid/scid mice.
The use of scid/scid mice as models to study development of human lymphoid cells following transplantation of human fetal tissues and to study interactions occuring during the course of infection of human cells with human immunodeficiency virus (HIV) is described.
Spontaneous development of neoplasms in severe combined immunodeficient mice
  • R. Samuel
  • Medicine
    SAGE open medical case reports
  • 2015
The differential diagnosis of such an atypical lymphoid infiltrate includes ‘leaky’ severe combined immunodeficient mice, thymic lymphoma and acute leukaemia.
Molecular Pathology of Severe Combined Immunodeficiency in Mice, Horses, and Dogs
Two molecular mechanisms account for SCID in dogs: Jack Russell Terriers have a mutation within the DNA-PKcs gene, whereas Cardigan Welsh Corgi and Basset Hound have different defects in the gene encoding the γ chain that is common to the receptors for IL-2.
SCID Mice as a Model for Human Leukemias
This chapter deals exclusively with the engraftment of human leukemias in this model system and the usefulness of the SCID mouse for studying murine and human hematopoiesis.
Severe Combined Immunodeficiencies
The clinical and immunological phenotypes and recent insights into the pathophysiology of clinical manifestations of immune dysregulation associated with immunodeficiency are described.


Combined immunodeficiency in horses: characterization of the lymphocyte defect.
It is demonstrated that CID foals have a defect in the production of committed B and T lymphocytes, which is similar to severe CID in children.
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.
Two young unrelated girls with similar but not identical manifestations of immunological deficiency were found to have no measurable adenosine-deaminase (A.D.A.) enzyme activity in their red blood-cells, suggesting they may be heterozygous, and their affected children homozyguous, for a mutant A.A.A.'s gene.
Primary immunodeficiency diseases and cancer: The immunodeficiency‐cancer registry
The majority of tumors are lymphoreticular or leukemias: these findings are consistent with the hypothesis that individuals with primary immunodeficiency syndromes have intrinsic abnormalities of the lymphoid system which result in increased frequency of malignant transformation and inability to eliminate transformed cells.
Occurrence of malignancy in immunodeficiency diseases: A literature review
In light of recent studies demonstrating both immunologically aggressive lymphocytes and the presence of blocking antibodies in the blood of neuroblastoma patients, a major role for immunity in ontogenesis seems almost certain.
Concentration of IgG1 and IgG2a allotypes in serum of nude and normal allotype-congenic mice.
Whether these mice showed high, normal, or low quantities of IgG1 or IgG2a relative to their normal counterparts depended on their age and genetic background.
Xenogeneic Monoclonal Antibodies to Mouse Lymphoid Differentiation Antigens *
Xenogeneic immunizations have the advantage of detecting a wide range of antigenic determinants because many commonly occurring proteins have diverged significantly during the course of evolution and
Thy‐1 determinants are present on many murine hematopoietic Cells other than T Cells
The development of a highly amplified immunofluorescence assay and the availability of monoclonal anti‐Thy‐1 antibodies have provided the methodology to reexamine the presence of Thy‐1 antigen on murine lymphohematopoietic cells and found it is present on a significant number of mouse bone marrow cells.
The defect in C3H/HeJ mice that limits mitogenic and immune responsiveness to be due to a single autosomal gene which is not linked to the H-2 histocompatibility or heavy-chain allotype loci.
A monoclonal antibody that recognizes B cells and B cell precursors in mice
The monoclonal antibody, RA3-2C2, appears to be specific for cells within the B cell lineage. This antibody does not recognize thymocytes, peripheral T cells, or nonlymphoid hematopoietic cells in
Expression of Thy-1 antigen is not limited to T cells in cultures of mouse hemopoietic cells.
The findings indicate that Thy-1 can occur on various murine hemopoietic stem and progenitor cells and myeloid cells and can no longer be regarded as an unambiguous marker of commitment to the T-cell lineage.