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DIT immunodeficiency
Question | Answer |
---|---|
B cell deficiency due to a defective tyrosine kinase gene cause low levels of all Ig's | Bruton's agammaglobulinemia |
Recurrent bacterial infxn in a boy after 6 mo | Bruton's agammaglobulinemia |
x linked immunodeficiencies | Wiskott-Aldrich Bruton's agammaglobulinemia Chronic Granulomatous Disease s/t Hyper IgM |
No thymus because the 3rd and 4th pouches fail to develop = no T cells | Thymic aplasia (DiGeorge) |
No PTH = Low Ca = Tetany | Thymic aplasia (DiGeorge) |
Congenital defects in heart/great vessels Recurrent viral, fungal, protozoal infxn | Thymic aplasia (DiGeorge) |
Chrom 22q11 deletion detected with FISH | Thymic aplasia (DiGeorge) |
Adenosine deaminase deficiency causing a defect in early stem cell differentiation | SCID |
severe recurrent infx, chronic diarrhea, FTT, no thymic shadow on newborn CXR | SCID |
infections seen in SCID | chronic mucocutaneous candidiasis fatal or recurrent RSV, VZV, HSV, measles, flu, parainfluenze PCP pneumonia |
T cell dysfunction v. C.albicans | Chronic Mucocutaneous Candidiasis |
Tx with ketoconazole | Chronic Mucocutaneous Candidiasis |
Immunodeficiency Thrombocytopenia/purpura Eczema Recurrent pyogenic infxn | Wiskott-Aldrich |
No IgM v. capsular polysaccharides | Wiskott-Aldrich |
Low IgM, high IgA | Wiskott-Aldrich |
IgA deficiency | Ataxia-telangiectasia |
Cerebellar ataxia and poor smooth pursuit of moving target with eyes, telangiectasias of face | Ataxia-telangiectasia |
increased risk of lymphoma and acute leukemias | Ataxia-telangiectasia |
radiation sensitive (avoid xrays) | Ataxia-telangiectasia |
increased alpha fp in kids greater than 8m; average age of death 25yo | Ataxia-telangiectasia |
Atopy, asthma, possible anaphylaxis to blood transfusions and blood products, sinus and lung infxns | selective Ig deficiency (usually IgA) |
often European descent, appear healthy | selective Ig deficiency (usually IgA) |
Mycobacteria infections | IL-12 receptor deficiency |
Phagocyte Deficiencies | Chronic Granulomatous Disease Chediak-Higashi disease Job's syndrome Leukocyte adhesion deficiency syndrome |
Lack of NDPH oxidase activity creates impotent phagocytes | CGD |
Susceptible to organisms with catalase (S.aureus, E coli, klebsiella, aspergillus, candida) | CGD |
Diagnosis with no yellow to blue-black oxidation with NBT dye | CGD |
defective LYST gene (lysosomal transport) | Chediak-Higashi |
defective phagocyte lysosome creates giant cytoplasmic granules in PMN | Chediak-Higashi |
Partial albinism recurrent respiratory and skin infections Neuro disorders | Chediak-Higashi |
Hyperimmunoglobulin E syndrome | Jobs |
Deficient INFgamma means PMNS don't respond to chemotactic stimuli (C5a, IL-8, LTB4) | Jobs |
High levels of IgE and Eosinophils | Jobs |
Eczema, Recurrent cold Staph aureus abscesses, course facial features, 2 rows of teeth | Jobs |
Abnormal integrins mean the phagocytes can't exit circulation | Leukocyte Adhesion Deficiency Syndrome |
Delayed separation of umbilicus | Leukocyte Adhesion Deficiency Syndrome |
What cell type is deficient in a young child with tetany from hypocalcemia and candidiasis resulting from immunosuppression? | T cells |
What is the neutrophil defect in a young child with recurrent lung infections and granulomatous lesions | Deficiency of NADPH oxidase |
Which germ cell gives rise to the missing structure in DiGeorge? | ENDOderm |
A child with repeated Staph Abscesses whose neutrophils don't respond to chemotactic stimuli has | Hyper IgE (Jobs) |
Anti mitochondrial abs | primary biliary cirrhosis |
anti-TSH receptor abs | graves |
anti-centromere abs | CREST scleroderma |
Anti basement membrane antibodies | Goodpasture's |
What drugs are composed of abs against TNF? | Etanercept Infliximab Adalimumab |
How does the mechanism of type 2 hypersensitivity differ from the mechanism of type 3 hypersensitivity? | 2 = abs against self 3 = ab/ag complexes |
A patient suffers from recurrent Neisseria infxs, what complement proteins are deficient? | C5 - C8 |
which abs are specific for SLE? | anti dsDNA, antismith |
After bone marrow transplantation, dermatitis, enteritis, and hepatitis. Disease process? | GVHD |