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13 Cards in this Set

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  • Back
X-linked recessive defect in tyr kinase gene (in Boys)
Low levels of all classes of Igs
Recurrent Bacterial infections after 6 mos of age
Bruton's aggammaglobulinemia (due to dec production of B cells)
Thymus and parathyroids fail to develop because of failed developed of 3rd and 4th pharyngeal pouches.
Tetany due to hypocalcemia.
Recurrent viral and fungal infections
Congenital defects of heart and great vessels.
22q11 deletion.
DiGeorge syndrome (dec produciton of t cells)
Defect in early-stem cell differentiation.
Recurrent viral, bacterial, fungal and protozoal infections.
Multiple causes (can't syn MHC II antigens, def. IL-2 receptors, ADA deficiency)
SCID (dec production of B and T cells)
Disseminated mycobacterial infections
IL-12 receptor deficiency (dec activation of T cells)
Defect in CD40L on CD4 Th cells leads to inability to class switch.
Presents early in life with severe pyogenic infections.
High IgM; low IgG, IgA, IgE
Hyper-IgM syndrome (dec activation of B cells)
X-linked defect in ability to mount an IgM response to capsular polysac. of bacteria
Elevated IgA; normal IgE; low IgM
Recurrent pyogenic infections, thrombocytopenic purpura, eczema
Wiskott-Aldrich syndrome (dec activation of B cells)
Failure of gamma-IFN production by Th cells.
Neutrophils fail to respond to chemotactic stimuli.
Recurrent cold (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, high IgE
Job's syndrome (dec activation of macrophages)
Defect in LFA-1 adhesion proteins on phagocytes.
Presents early with severe pyogenic and fungal infections and delayed separation of umbiilicus.
Leukocyte adhesion deficiency syndrome (phagocytic cell def)
AR. Defect in MT function and lysosomal emptying of phagocytic cells.
Prsents with recurrent pyogenic infections by staph and strep, partial albinism, and peripheral neuropathy.
Chediak-Higashi disease (phagocytic cell def)
Defect in phagocytosis of PHM due to lack of NADPH oxidase activity or similar enzymes.
Marked susceptibility to OI like Staph Aureus, E Coli, Aspergillus.
Confirm with negative nitroblue tetrazolium dye reduction test (what a mouthful!)
Chronic granulomatous disease (phagocytic cell def)
T-cell dysfunction specifically against Candida albicans. Presents with skin and mucous membrane Candida infections.
Chronic mucocutaneous candidiasis (idiopathic dysfunction of T cells)
Deficiency in a specific class of Igs - due to defect in isotype switching. Most commonly IgA def
Presents with sinus and lung infections; milk allergies and diarrhea are common
Selective Ig deficiency (idiopathic dysfunction of B cells)
Defect in DNA repair enzymes with associated IgA def
Presents with cerebellar problems (ataxia) and spider angiomas (telangiectasias)
Ataxia-telangiectasia (idiopathic dysfunction of B cells)