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18 Cards in this Set
- Front
- Back
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features of immunodeficiency:
Bruton's Agammaglobulinemia |
X-LINKED (boys)
B-CELL DEFICIENCY: defective tyr kinase gene --> low levels of all Ig's no B-cells on smear INFECTIONS: recurrent bacterial infections after 6 months |
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features of immunodeficiency:
Thymic Aplasia |
aka DiGeorge Syndrome
3RD/4TH POUCHES FAIL TO DEVELOP: No thymus --> no T-cells (no thymic shadow on CXR) No parathyroids --> no PTH --> low Ca2+ --> tetany INFECTIONS: recurrent viral, fungal, protozoal infections A/W CONGENITAL DEFECTS: 90% have chrom 22q11 deletion congenital heart/great vessels defect |
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features of immunodeficiency:
Severe Combined Immunodeficiency (SCID) |
EARLY STEM CELL DIFFERENTIATION DEFECT:
7+ gene defects --> adenosine deaminase def Defective B-cells & T-cells No thymic shadow on CXR DO NOT GIVE live vaccines TRIAD: Severe recurrent infections: chronic mucocutaneous candidiasis RSV, VZV, HSV, measles, influenza, parainflenza PCP pneumonia Chronic diarrhea Failure to thrive |
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features of immunodeficiency:
Chronic Mucocutaneous Candidiasis |
T-CELL DYSFUNCTION vs. C. Albicans
Rx: Antifungals (ketoconazole, fluconazole) |
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features of immunodeficiency:
wiskott-aldrich syndrome |
"WAITER"
W = Wiskott A = Aldrich I = Immunodeficiency T = Thrombocytopenia --> pupura E = Eczema (central --> trunk) R = Recurrent pyogenic infections |
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features of immunodeficiency:
ataxia-telangiectasia |
IgA DEFICIENCY:
incr'd cancer risk: lymphoma & acute leukemias radiation sensitivity (avoid x-rays, if possible) +/- incr'd AFP in children > 8 months ATAXIA: cerebellar ataxia poor smooth pursuit of moving target with eyes TELANGIECTASIA: telangiectasias of face > 5 y/o |
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features of immunodeficiency:
selective immunoglobulin deficiencies |
MC = IgA DEFICIENCY:
most "appear" healthy recurrent sinus & lung infections a/w atopy, asthma possible anaphylaxis to blood transfusions & blood products |
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features of immunodeficiency:
chronic granulomatous disease |
PHAGOCYTES LACK NADPH OXIDASE ACTIVITY:
susceptible to catalase+ bugs (S. Aureus, E. Coli, Klebsiella spp., Aspergillus spp., Candida spp.) DX: NEG NBT (NitroBlue Tetrazolium) test TX: prophylactic TMP-SMX IFN-gamma also helpful |
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what is a normal NitroBlue Tetrazolium (NBT) test
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"normal" = NBT+
pigment changes from yellow --> blue-black as it is metabolized by macrophages via NADPH oxidase |
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features of immunodeficiency:
chediak-higashi disease |
DEFECTIVE PHAGOCYTIC LYSOSOMES
defective LYST gene (lysosomal transport) Dx'c: giant cytoplasmic granules in PMN's TRIAD: partial albinism recurrent respiratory tract & skin infections neurologic d/o's (peripheral neuropathy & seizures) |
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features of immunodeficiency:
job syndrome |
HYPERIMMUNOGLOBULIN E SYNDROME:
Deficient IFN-gamma --> PMNs fail to respond to chemotactic stimuli (e.g. C5a, LTB4) High levels of IgE & eosinophils TRIAD: eczema recurrent cold S. Aureus abscesses course facial features [broad nose, prominent forehead ("frontal bossing"), deep set eyes, & "doughy" skin] RETAINED PRIMARY TEETH is common |
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features of immunodeficiency:
leukocyte adhesion deficiency syndrome |
ABNORMAL INTEGRINS:
phagocytes unable to exit circulation e.g. delayed separation of umbilicus |
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immunodeficiency:
congenital heart defect + low calcium + recurrent infections |
DiGeorge Syndrome
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immunodeficiency:
candidiasis + chronic diarrhea + failure to thrive |
SCID
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immunodeficiency:
negative nitroblue tetrazolium test |
CGD
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immunodeficiency:
poor smooth pursuit of eyes + elevated AFP after 8 months |
Ataxia-Telangiectasia
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immunodeficiency:
partial albinism + recurrent URI's +neurological d/o's |
Chediak-Higashi Syndrome
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when do infections typically begin in children with immune d/o's
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3 months of life
(circulating maternal Ig levels no longer high enough to fight infectious insults) |
