Like this study set? Create a free account to save it.

Sign up for an account

Already have a Quizlet account? .

Create an account

Bruton's agammaglobulinemia

X linked; Bacterial infections @ 6 months; defect in tyrosine kinase that decreases production of B cells

Thymic aplasia (DiGeorge)

3rd/4th pharyngeal pouch problem; tetany; viral and funagl infections; cardiac and facial problems; 22q11


Defect in early stem cell differentiation-->B and T cell production decreases
3 types: 1. failure to synthesize MHC II
2. defective IL-2 receptors (most common & X-linked)
3. adenosine deaminase deficiency

IL-12 receptor deficiency

Decreased T cell activation; mycobacterial infections due to decreased Th1 response

Hyper IgM syndrome

Defect in CD40 on T helper cells-->inability to class switch; pyogenic infections; high IgM, low other immunoglobulins

Wiskott-Aldrich syndrome

X linked; B cell activation problem; defect in ability to mount IgM response to capsular polysaccharides; increased IgE and IgA; eczema; thrombocytopenia; infections

Job's syndrome

Failure of IFN-gamma production of helper T cells; neutrophils fail to respond to chemotactic stimuli; coarse Facies; cold staph Abscesses; retained primary Teeth; increased IgE; Dermatologic problems (eczema)

Leukocyte adhesion deficiency syndrome (type 1)

Defect in in LFA-1 integrin (CD18) on phagocytes; recurrent bacterial infection, absent pus formation, neutrophilia, and DELAYED SEPARATION OF UMBILICUS


AR; problem with microtubular fcn and lysosomal emptying of phagocytic cells; pyogenic infections, partial ALBINISM, and peripheral neuropathy

Chronic granulomatous disease

NADPH oxidase deficiency; susceptible to opportunistic infections; Negative nitroblue tetrazolium reduction test

Chronic Mucocutaneous candidiasis

Specific Tcell dysfunction vs candida-->skin and mucous membrane candida infections

Selective Immunoglobulin Deficiency

Deficiency in specific class of Immunoglobulins; problem with isotype switching is possible; IgA is most common deficiency; presents w/ sinus and lung infection; milk allergies and diarrhea are common; anaphylaxis upon exposure to blood products containing IgA


DNA repair enzymes w/ associated IgA deficiency; cerebellar problems and spider angiomas

Common Variable Immunodeficiency (CVID)

Normal # of circulating B cells, but decreased plasma cells (defect in Bcell maturation), decreased Ig, can be acquired....also, increased risk of autoimmune disease and lymphoma

Please allow access to your computer’s microphone to use Voice Recording.

Having trouble? Click here for help.

We can’t access your microphone!

Click the icon above to update your browser permissions and try again


Reload the page to try again!


Press Cmd-0 to reset your zoom

Press Ctrl-0 to reset your zoom

It looks like your browser might be zoomed in or out. Your browser needs to be zoomed to a normal size to record audio.

Please upgrade Flash or install Chrome
to use Voice Recording.

For more help, see our troubleshooting page.

Your microphone is muted

For help fixing this issue, see this FAQ.

Star this term

You can study starred terms together

Voice Recording