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DIT immunodeficiency

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
Created by: kayjames



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