Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The cataract Shionogi (CTS) mouse characterized by cataracts and microphthalmia is a sister strain of the NOD mouse. We have made the immunological characterization of the CTS mouse by means of in vitro assays. Splenocytes of the CTS mouse were very low in the responsiveness to T cell mitogens such as Con A and PHA but not to a B cell mitogen, LPS. The production of IL 2 and expression of IL 2-receptor of spleen cells after in vitro stimulation with Con A decreased in the CTS mouse, when compared with those in the NOD and the other reference strains. In mixed lymphocyte culture, CTS splenocytes did not proliferate and did not generate cytotoxic T lymphocytes when cocultured with splenocytes of the C3H/He mouse. The NK activity against YAC-1 target cells was lower in the CTS mouse than in the C3H/He mouse, an NK high responder, but higher than in the NOD mouse, a low responder. These results suggest that the CTS mouse is deficient in T cells. Subset analysis of splenic lymphocytes of the CTS mouse using flow cytometry revealed that the percentage of T cells in the CTS mouse was significantly lower than those in the reference strains, which was consistent with the reduced responsiveness to T cell mitogens in the CTS mouse. The deficiency in the Ly-2+ T cell subset was particularly striking. However, the response to PHA of the splenocytes of the CTS mouse was normalized when T cells were enriched by nylon wool-passing and cell-sorting. Therefore, it seems that decreased T cell activity is due to a decrease in T cell number and not to dysfunction of individual T cells.
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PMID:Immune deficiency of the CTS mouse. I. Deficiency of in vitro T cell-mediated immune response. 214 24

CD8 deficiency is a rare primary immunodeficiency with low or absent peripheral CD8 cells which results from TAP deficiency, Zap 70 deficiency and CD8 alpha gene mutation.We report a 14 year old female who presented with a history of recurrent pneumonia, bronchiectasis, otitis, severe varicella, herpetic lesions of mouth, bilateral uveitis, and cataract formation since the age of 8 years.She had growth failure, a huge spleen and moderate clubbing. In immunologic workup, humoral and phagocytic systems were normal. DTH response to candida, PPD and DT were negative but LTT response to PHA mitogen was normal. HLA typing showed normal class I expression. Flowcytometry of peripheral blood showed CD8: 0 to 2% (absolute count, 0-60 cells/mm3) with increased CD4/CD8 ratio on several occasions.Diagnosis of this patient cannot be HLA class I deficiency (TAP1 or TAP2), because class I expression had been normal. It is possible to be Zap -70 deficiency or CD8 alpha gene mutation. Bilateral uveitis in our patient was a unique presentation which might have resulted because of immune dysregulation in CID.
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PMID:Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. 1730 23