Immunodeficiencies Flashcards
X-linked agammaglobulinemia enzyme deficiency
Bruton tyrosine kinase
recurrent bacterial and enteroviral infections after 6 mo
low Ig levels
absent/small lymph nodes and tonsils
X-linked agammaglobulinemia
airway and GI infections, AI disease, atopy, anaphylaxis to blood tranfusions can occur
selective IgA deficiency
acquired in 20s-30s, inc risk of AI disease, bronchiectasis, lymphoma, sinopulmonary infections
low plasma cells and Igs
common variable immunodeficiency
tetany, recurrent viral/fungal infections, conotruncal abnormalities
DiGeorge syndrome
disseminated mycobacterial and fungal infections
May present after administration of BCG vaccine
IL-12 R deficiency
coarse facies, cold abscesses, retained primary teeth, eczema
Job syndrome
hyper-IgE
noninvasive candida albicans infections of the skin and mucous membranes
chronic mucocutaneous candidiasis
T-cell dysfunction
Failure to thrive, chronic diarrhea, thrush, recurrent viral, bacterial, fungal, protozoal infections
SCID
SCID enzyme deficiency
adenosine deaminase
cerebellar defects, spider angiomas, IgA deficiency
with poor smooth persuit
ataxia-telangiectasia
defect in ataxia-telangiectasia
ATM gene–> DNA double stranded breaks –> cell cycle arrest
Severe pyogenic infections early in life
Pnuemocystis, cryptosporium, CMV infections are common
hyper IgM syndrome
Defect in hyper-IgM syndrome
defective CD40L on Thelper cells = class switching defect X-linked recessive
Thrombocytopenic purpura, eczema on the trunk, recurrent infections
Wiskott-Aldrich syndrom
Wiskott-Aldrich syndrome defect
mutation in WAS (X-linked)
T cells can’t recognize actin cytoskeleton
inc IgE, IgA
Delayed separation of the umbilical cord
- recurrent bacterial skin and mucosal inf
- absent pus formation
- impaired wound healing
Leukocyte adhesion deficiency type 1
recurrent pyogenic inf by Staph and Strep
parital albinsim, peripheral neuropathy
progressive neurodegeneration
Chediak-Hagashi syndrome
increased susceptibility to catalse + organisms
chronic granulomatous disease
chronic grnaulomatous disease defect
NADPH oxidase defect: can’t make reactive oxygen species and absent respiratory burst in neutrophils
X-linked
What test can diagnose chronic granulmoatous disease?
nitroblue tetrazolium test is negative: doesn’t turn blue
What embryologic origin fails to develop in DiGeorge syndrome?
3rd and 4th pouches
no thymus or parathyroid glands
What is the most common immunodeficiency?
selective IgA def
What can treat chronic mucocutaneous candidiasis?
ketoconazole
What is the only immune defense in SCID?
NK cells
Name the X-linked immunodeficiencies
wiskott-aldrich
bruton agammaglobulinemia
chronic granulomatous dz
hyper IgM sundrome
