Immune deficiency, combined

Gendelman HE, Baca LM, Turpin J, Kalter DC, Hansen B, Orenstein JM, Dieffenbach CW, Friedman RM, Meltzer MS (1990) Regulation of HIV rephcation in infected monocytes by IFN-alpha. Mechanisms for viral restriction. J Immunol 145 2669-26676 Giovannini M, Zuccotti GV, Biasucci G, Locatelh V, Riva E (1992) Combined zidovudine and interferon-alpha 2a therapy in children with acquired immune deficiency syndrome. J Int Med Res 20 295-301... 

Amphotericin B is the drug of choice for treatment of acute C. neoformans meningitis. Amphotericin B, 0.5 to 1 mg/kg/day, combined with flucytosine, 100 mg/kg/day, is more effective than amphotericin alone. In the acquired immune deficiency syndrome (AIDS) population, flucytosine is often poorly tolerated, causing bone marrow suppression and GI distress. 

Severe combined immune deficiency (SCID) is a rare inherited disorder in which multiple components of the immune system are affected. About 50% of SCID cases are caused byX-linked recessive mutations in the gene encoding a subunit of a receptor for interleukins 2,4,... 

Currently, more than 400 human somatic cell gene therapy protocols are being tested. Most of these involve the use of genetically modified cells to treat noninherited diseases. For example, normal copies of the p53 tumor suppressor gene are inserted into lung tumors to halt tumor progression, and genetically modified cells have been used to create new coronary vessels in patients with coronary heart disease. Success has also been achieved in the treatment of hereditary disease (most notably, the recent successful treatment of X-linked severe combined immune deficiency see Clinical Correlate). 

In 2000, French researchers announced the first gene therapy cure in nine children with X-linked severe combined immune deficiency (X-SCID). This rare condition is caused by the inherited loss of a protein that is part of the docking site for critical immune system signal proteins. Because of this defect, children with X-SCID have no mature, working lymphocytes—critical immune system cells. 

X-linked severe combined immune deficiency (X-SCID)— Absence of a functioning immune system inherited with the X chromosome. X-linked refers to inheritance with the X chromosome, one of the chromosomes involved in determining gender. In humans, women have two X chromosomes, and men have an X and a Y chromosome. X-linked genes can only be inherited by a boy from his mother, since his father would have given him his Y chromosome. 

NOD-SCID non-obese diabetic severe combined immune deficiency... 

Cavazzana-Calvo, M. (2000). Gene therapy of human severe combined immune deficiency (SCID)-Xl disease. Science, 288, 669-672. 

Successful peripheral T-lymphocyte-directed gene transfer for apatient with severe combined immune deficiency caused by adenosine deaminase deficiency. Onodera, M., Ariga, T., Kawamura, N., Kobayashi, I., Ohtsu, M., Yamada, M., Tame, A., Furuta, H., Okano, M., Matsumoto, S., Kotani, H. et al. (1998). Blood, 91 (1) 30-36. 

T-lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase. Weinberg, K., Hershfield, M.S., Bastian, J., Kohn, D., Sender, L., Parkman, R., Lenarsky, C. (1993).JClin Invest, 2 596-602. 

Mosier, D. E., Baird, S. M. and Kirven, M. B. (1990). EBV-associated B-cell lymphomas following transfer of human peripheral blood lymphocytes to mice with severe combined immune deficiency. Curr. Top. Microbiol. Immunol. 166 317-323. 

Human cells, tissues, or organs implanted or transplanted in animals present a relatively strong and valuable tool, provided that immune rejection of the human material can be avoided. Immune-deficient animals like mice may well be used to develop organ-like structures (teratomas) from transplanted stem cells [13] or with combinations of human cells or human tissue (e.g., synoviocytes and cartilage [14], and activated mononuclear cells and transplanted skin [15]). 

Severe combined immune deficiency (SCID) Adenosine deaminase... 

Severe Combined Immune Deficient Mouse Model... 

Murphy, W., Taub, D., Anver, M., Conlon, K., Oppenheim, J., Kelvin, D. and Longo, D. (1994). Human RANTES induces the migration of human T lymphocytes into the peripheral tissues of mice with severe combined immune deficiency. Eur. J. Immunol. 24, 1823-1827. 

It is important to measure the serum immunoglobulins on several occasions, as transient suppression of the IgM level may be due to the toxemia of septicemic infection. The many causes of secondary falls should be excluded, and a family study be undertaken. No other abnormalities have yet been found lymphocyte transformation is normal. Isolated IgM deficiency combined with cellular immune deficiency is recorded (S4). 

Human blood, given by blood donors, is a source not only of cellular material (red cells, white cells, platelets) but also of blood plasma, which is subjected to protein fractionation to give albumin, anti-hemophilia factors and immunoglobulins. The possibility of transmission of Creutzfeld-Jakob disease (CJD) - prions are not really understood - and acquired immune deficiency syndrome (AIDS), if sterilization procedures fail, combined with the feasibility of manufacturing proteins by recombinant DNA technology, mean that there is uncertainty about the long-term future of the blood products industry. Indeed, the problems with bovine spongiform encephalitis (BSE) and the related fatal human brain disorder, CJD, have led to unease about cattle-derived substances. 

---