immunology 5

An autosomal recessive disorder characterized by cerebellar ataxia, "spider web" dilated capillaries, and sinus or lung infections associated with immunodeficiency

The end stages of infection with either HIV-1 or HIV-2, with its associated symptoms, infections, and high mortality rate

an enzyme in the pathway of purine (DNA/RNA) salvage, which, if deficient, can cause SCID

A B cell disorder that results in the lack of mature B cells, and thus, none of the classes of immunoglobulins that they produce.

Immunodeficiency caused by the inability to express CD3 proteins on the surface of lympocytes

A disease characterized by defective lysosomes in PMNs, resulting in giant granules and lack of effective phagocytic function

Immunodeficiency caused by a mutation in the genes that encode for NADPH oxidase, which is critical for PMN function

The category of immunodeficiencies that result in the decrease in the amount of one or more (but not all) immunoglobulin classes

A deletion on chromosome 22 which results in developmental problems with the thymus, heart, and parathyroid

One of the protein antigens expressed on the surface of an HIV-1 virus

One of the protein antigens expressed on the surface of an HIV-1 virus

One of the protein antigens expressed on the surface of an HIV-1 virus

The combination chemotherapy, consisting of RT inhibitors and viral protease inhibitors

HIV that is predominantly found in the developing world, but can also lead to AIDS, and must be tested for separately if suspected

The most prevelant HIV virus in the US, and one of the causes of AIDS

A genetic defect that results in lack of expression of the CD18 marker, and the inability to adhere to other cells, as well as recurrent infections

An abnormal condition in which RBC are sensitized (and lysed) by activation of the complement pathway, which tends to occur at night (lower oxygen tension). It is an inherited deficiency in the complement system (DAF).

One of the protein antigens expressed on the surface of an HIV-1 virus

immunodeficiency caused by intrinsic defects in the cells of the immune system, often the result of inherited genetic defects

A form of SCID which results from a defect in stem cells, and results in very low levels of both lymphocytes and granulocytes

An enzyme found in retroviruses (and not in cells) that will synthesize complementary DNA (cDNA) from an RNA template

immune deficiencies that result from environmental factors, such as HIV infection, radiation, burns or chemotheapy

A group of genetic disorders of the immune system that affect both B and T cells

The process that occurs when a hormone binds to a receptor on the surface of a cell, and thereby sends a signal to the nucleus of that cell, without the hormone entering the cell

A rare X-linked recessive immunodeficiency associated with decreased platelets and recurrent infections similar to those in other immunodeficiencies (primary and secondary)

The inactivation of one (of two) sets of X chromosome genes in females, which explains their ability to recognize signals of the IL2-R receptor (which males who have defects in this receptor cannot do)

A defect in class switching (failure to switch to IgG or others) that results in compensatory increases in IgM, but low IgG, IgA and IgE levels in the blood

A mutation in a gene on the X-chromosome, which affects primarily males (since females have two X chromosomes)