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11 Cards in this Set
- Front
- Back
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X-linked (boys)
B-cell deficiency-->defective tyrosine kinase-->low levels of all Ig's Recurrent bacterial infections after 6 months of age |
Bruton's agammaglobulinemia
(remember B's: boys, B-cells, bacterial infections) |
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3rd and 4th pouches fail to develop
no thymus-->no T cells no parathyroids-->low calcium-->tetany congenital defects in heart/great vessels recurrent viral, fungal, protozoal infections 90% have chr 22q11 deletion |
thymic aplasia
aka DiGeorge syndrome |
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defect in early stem cell differentiation
adenosine deaminase deficiency last defense is cytotoxic NK cells (no B or T cells) Triad: 1. severe recurrent infections: chronic mucocutaneous candidiasis; fatal or recurrent RSV, VZV, HSV, measles, flu, parainfluenza; PCP pneumonia 2. chronic diarrhea 3. failure to thrive no thymic shadow on NB xray |
severe combined immunodeficiency (SCID)
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immunodeficiency
thrombocytopenia and purpura eczema (truncal rather than extremities) recurrent pyogenic infections Low IgM, high IgA X-linked |
Wiskott-Aldrich
(remember WAITER for Wiskott Aldrich, immunodeficiency, thrombocytopenia and purpura, eczema, recurrent pyogenic infections |
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IgA deficiency
Cerebellar ataxia poor smooth pursuit of moving target with eyes telengiectasias of face appearing after 5 years old increased cancer risk (lymphomas and leukemias) may have increased AFP in kids >8 months old |
Ataxia telangiectasia
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Appear healthy but with frequent sinus and lung infections and atopy/asthma
possible anaphylaxis to blood tranfusion/blood products |
Selective Immunoglobulin deficiencies
IgA is most common |
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Recurrent mycobacterial infections
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IL-12 receptor deficiency
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Phagocyte deficiency with lack of NADPH oxidase activity-->impotent phagocytes
Susceptible to organisms with catalase Dx with nitroblue tetrazolium (NBT) dye |
Chronic granulomatous disease (CGD)
treat with prophylactic TMP-SMX IFN gamma also helpful |
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defective LYST gene-->defective phagocyte lysosome-->giant cytoplasmic granules in PMNs (diagnostic)
Presentation: partial albinism recurrent respiratory tract and skin infections neurologic disorders |
Chediak-Higashi disease
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deficient IFNgamma-->PMNs fail to respond to chemotactic stimuli
high levels of IgE and eosinophils Presentation: eczema recurrent cold staph aureus abscesses coarse facial features: broad nose, frontal bossing, deep set eyes, "doughy" skin also commonly have retained primary teeth-->2 rows of teeth |
Job syndrome/Hyperimmunoglobulin E syndrome
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Abnormal integrins-->inability of phagocytes to exit circulation
delayed separation of umbilical cord |
Leukocyte adhesion deficiency syndrome
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