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X linked; Bacterial infections @ 6 months; defect in tyrosine kinase that decreases production of B cells
Thymic aplasia (DiGeorge)
3rd/4th pharyngeal pouch problem; tetany; viral and funagl infections; cardiac and facial problems; 22q11
Defect in early stem cell differentiation-->B and T cell production decreases
3 types: 1. failure to synthesize MHC II
2. defective IL-2 receptors (most common & X-linked)
3. adenosine deaminase deficiency
IL-12 receptor deficiency
Decreased T cell activation; mycobacterial infections due to decreased Th1 response
Hyper IgM syndrome
Defect in CD40 on T helper cells-->inability to class switch; pyogenic infections; high IgM, low other immunoglobulins
X linked; B cell activation problem; defect in ability to mount IgM response to capsular polysaccharides; increased IgE and IgA; eczema; thrombocytopenia; infections
Failure of IFN-gamma production of helper T cells; neutrophils fail to respond to chemotactic stimuli; coarse Facies; cold staph Abscesses; retained primary Teeth; increased IgE; Dermatologic problems (eczema)
Leukocyte adhesion deficiency syndrome (type 1)
Defect in in LFA-1 integrin (CD18) on phagocytes; recurrent bacterial infection, absent pus formation, neutrophilia, and DELAYED SEPARATION OF UMBILICUS
AR; problem with microtubular fcn and lysosomal emptying of phagocytic cells; pyogenic infections, partial ALBINISM, and peripheral neuropathy
Chronic granulomatous disease
NADPH oxidase deficiency; susceptible to opportunistic infections; Negative nitroblue tetrazolium reduction test
Chronic Mucocutaneous candidiasis
Specific Tcell dysfunction vs candida-->skin and mucous membrane candida infections
Selective Immunoglobulin Deficiency
Deficiency in specific class of Immunoglobulins; problem with isotype switching is possible; IgA is most common deficiency; presents w/ sinus and lung infection; milk allergies and diarrhea are common; anaphylaxis upon exposure to blood products containing IgA
DNA repair enzymes w/ associated IgA deficiency; cerebellar problems and spider angiomas
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