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34 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Bruton's Agammaglbulinemia
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X-linked Recessive. Defect in BTK (tyrosine kinase) that blocks B-cell differentiation/maturation
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Recurrent Bacterial Infections after 6 months due to opsonization defect
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Hyper-IgM
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Defective CD40L on helper T-cells- No class switching
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Severe pyogenic infections early in life
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Severe Ig deficiency
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Defect in isotype switching- deficiency in specific class of immunoglobulins
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Sinus and lung infections, milk allergies and diarrhea, Anaphylaxis on exposure to blood products with IgA
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Common Variable Immunodeficiency
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Defect in B-cell maturation; many causes
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Can be acquired in 20-30s. Increased risk of autoimmune disease, lymphoma, sinopulmonary infections
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Thymic Aplasia
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22q11 deletion- failure to develop 3rd and 4th pharyngeal pouches
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Tetany, recurrent viral/fungal infections, congenital heart and great vessel defects
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IL-12 receptor deficiency
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Decreased TH1 response
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Disseminated mycobacterial infections
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Hyper-IgE Syndrome
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Th cells fail to produce IFN-y- inability of neutrophils to respond to chemotactic stimuli
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FATED: coarse Facies, cold staphylococcal Abscesses, retained primary Teeth, increased IgE, Dermatologic problems (eczema)
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Chronic mucocutaneous candidiasis
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T-cell dysfunction
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Candida infections of skin and mucous membranes
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SCID
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Severeal Types: Defective IL-2 receptor (most common, X-linked recessive), adenosine deaminase deficiency, failure to synthesize MHC II antigens
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Recurrent viral, bacterial, fungal and protozoal infections, due to both B & T-cell deficiency.
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Ataxia-telengiectasia
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Defect in DNA repair enzyme
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Triad: cerebellar defects, spider angiomas, IgA deficiency
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Wiscott-Aldrich Syndrome
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X-linked recessive defect. Progressive deletion of B & T cells
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WA
Immunodeficiency Thrombocytopenia Eczema Recurrent Pyogenic Infections |
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Leukocyte adhesion deficiency (type 1)
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Defect in LFA-1 integrin (CD18) protein on phagocytes
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Recurrent bacterial infections, absent pus formation, delayed separation of umbilicus. Can present with neutrophilia
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Chediak-Higashi Syndrome
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Autosomal Recessive- defect in microtubular function with decreased phagocytosis
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Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, peripheral neuropathy
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Chronic Granulomatous disease
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Lack of NADPH oxidase- decreased reactive oxygen species and absent respiratory burst in neutrophils
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increased susceptibility to catalase-positive organisms (S. aureus, E. coli, Aspergillus). Negative Nitroblue Tetrazolium dye test
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Antinuclear Antibodies
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SLE, Sjogren's, Scleroderma, Polymyositis, RA, Juvenile Arthritis, Mixed connective disease, dermatomyositis
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Anti-dsDNA, anti-Smith
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SLE
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Antihistone
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Drug-induced lupus
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Anti-Scl 70 (anti-topoisomerase I)
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Diffuse sclerodserma
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Anticetromere
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CREST
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Anti-IgG
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RA
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Antimitochondrial
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Primary Biliary cirrhosis
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ANti-U1 RNP
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Mixed Connective Disease
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Anti-smooth muscle
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Autoimmune hepatitis
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Anti-glutamate decarboxylase
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Type 1 DM
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c-ANCA
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Wegener's granulomatosis
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p-ANCA
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Other vasculitides
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mpo-ANCA
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Microscopic polyangitis
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Antiglidian, antiendomysial
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Celiac disease
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Anti-basement Membrane
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Goodpasture's Syndrome
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Anti-desmoglein
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Pemphigus vulgaris
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Antimicrosomal, antithyroidglobulin
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Hashimoto's thyroiditis
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Anti-Jo-1
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Polymyositis, dermatomyositis
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Anti-SS-A
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Sjogren's syndrome
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Anti-SS-B
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Sjogren's syndrome
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