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14 Cards in this Set

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Bruton's agammaglobulinemia:

MOI
due to
results in
sign
XLR

defect in a tyrosine kinase gene --> decreased B cell production

low levels of all classes of Ig's

recurrent bacterial infections after 6 months of age (maternal IgG declines after 6 months of age)
DiGeorge syndrome:

deletion
due to
results in
signs (2)
22q11 deletion

failure of development of 3rd and 4th pharyngeal pouches --> no thymus --> decreased T cell production

recurrent viral and fungal infections

tetany (due to hypocalcemia - parathyroid also fail to form)
congenital defects of heart and great vessels
severe combined immunodeficiency (SCID):

due to (3)

results in
adenosine deaminase deficiency
defective IL-2 receptors
failure to synthesize MHC II antigens

recurrent viral, bacterial, fungal, and protozoal infections (because of early defect in stem cell differentiation)
IL-12 receptor deficiency:

patients present with
disseminated mycobacterial infections (decreased T cell activation results in failure of NK cells and Th1 cells to be activated)
hyper-IgM syndrome:

due to
patients present with
signs (2)
defect in CD40L on CD4 Th cells --> inability to class switch

severe pyogenic infections early in life

high levels of IgM
very low levels of IgG, IgA, and IgE
Wiskott-Aldrich syndrome:

MOI
due to
Ig levels
symptoms (3)
X-linked

defect in the ability to mount an IgM response to capsular polysacchardies of bacteria

IgA - high
IgM - low
IgE -normal

pyogenic infections
thrombocytopenic purpura
eczema

(PIPE)
Job's syndrome:

due to
patients present with (4)
IgE levels
failure of IFN-γ production by helper T cells --> neutrophils fail to respond to chemotatic stimuli

recurrent, noninflamed ("cold") staph abscesses
eczema
corase facies
retained primary teeth

IgE - high
leukocyte adhesion deficiency syndrome:

due to

patients present with (2)
defect in LFA-1 adhesion proteins on phagocytes

severe pyogenic and fungal infections
delayed separation of the umbilical cord
Chediak-Higashi disease:

MOI
due to
patients present with (3)
AR

defect in microtubular function and lysosomal emptying of phagocytic cells

recurrent pyogenic infections by staph and strep
partial albinism
peripheral neuropathy
chronic granulomatous disease (CGD):

due to
patients present with
diagnosis confirmed with
lack of NADPH oxidase activity --> defect in phagocytosis by neutrophils

susceptibility to opportunisitc infections with bacteria (esp. S. aurues, E. coli, and Aspergillus)

negative nitroblue tetrazolium dye reduction test
chronic mucocutaneous candidiasis:

due to
patients present with
T-cell dysfunction again Candida albicans

skin and mucous membrane Candida infections
selective immunoglobulin deficiency:

due to
most common form
patients present with (3)
deficiency in a specific class of Ig's (due to a defect in isotype switching)

IgA deficiency

sinus and lung infections
milk alergies
diarrhea
ataxia-telangiectasia:

due to
patients present with (2)
defect in DNA repair enzymes with associated IgA deficiency

cerebellar problems, e.g., ataxia
spider angiomas, i.e., telangiectasias
common variable immunodeficiency:

number of:
- B cells
- plasma cells
- Ig's

acquired during the ages of
B cells - normal
plasma cells - decreased
Ig's - decreased

20's to 30's