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Chronic granulomatous disease (high yield) Molecular Defect: Deficiency of NAPDH oxidase, failure to generate O2 radicals Symptoms: Recurrent infections with catalase + bacteria & fungi Leukocyte-adhesion deficiency (high yield) Molecular Defect:Absence if CD18: common Beta chains of integrins Symptoms:Recurrent infections, failure to form pus, omphalitis Chediak-Higashi syndrome (medium yield) Molecular Defect: Granule structural defect Symptoms: Recurrent infection with bacteria, chemotactic & degranulation defects, absent NK, partial albinism G6PD deficiency Molecular Defect: Deficiency of essential enzyme in hexose mono-phosphate shunt Symptoms: Same as CGD with associated anemia MPO deficiency Molecular Defect: Granule enzyme deficiency Symptoms: Mild or none Job Syndrome Molecular Defect: TH1 cells can't make IFN-γ, PMNs don't respond to chemotactic stimuli Symptoms: Coarse facies, cold abscess, retained primary teeth, ↑ IgE, eczema C3 complement deficiency (high yield) Symptoms: Recurrent bacterial infections, immune complex disease C5, C6, C7, C8 Deficiency (high yield) Symptoms: Recurrent meningococcal & gonococcal infections C1q, C1r, C1s, C4, C2 deficiency (low yield) Symptoms: ↑ immune complex diseases, ↑ infections with pyogenic bacteria Molecular Defect: C1-INH deficiency (high yield) Symptoms: hereditary angioedema; edema at the mucosal surfaces Bruton X-linked hypo- γ globulinemia (high yield) Molecular Defect: Deficiency of a tyrosine kinase blocks B-cell maturation Symptoms: ↓ Ig all classes, no circulating B cells, pre-B cells in bone marrow normal, normal CMI X-linked hyper-IgM syndrome (high yield) Molecular Defect: Deficiency of CD40L on activated T cells Symptoms: ↑ serum IgM without other isotypes, normal B- & T- cell extracellular bacteria & opportunists Selective IgA deficiency (medium yield) Molecular Defect: Deficiency of IgA (most common) Symptoms: Repeated sinopulmonary & GI infections (mucosal surface) Common variable hypo-γ-globulinemia (medium yield) Molecular Defect: Unknown Symptoms: Onsets late teens, B cells present in blood, Ig levels ↓ over time, ↑ autoimmunity Transient hypo-γ-globulinemia of infancy (medium yield) Molecular Defect: Delayed onset of normal IgG synthesis Symptoms: Detected in 5th to 6th month, resolves by 16-30 months, infections with pyogenic bacteria DiGeorge Syndrome (high yield) Molecular Defect: Failure of formation of 3rd & 4th pharyngeal pouches, thymic aplasia Symptoms: Facial abnormalities, hypoparathyroidism, cardiac malformations, ↓ T- cell #, absence of T-cell responses MHC class I deficiency Molecular Defect: Failure of TAP 1 molecules to transport peptides to ER Symptoms: CD8+ T cells↓, CD4 + cells normal, recurrent viral infections, normal DTH, normal Ab MHC class II deficiency Molecular Defect: Failure of MHC class II expression, defects in transcription factors Symptoms: Deficient in CD4 cells, no GVHD, ↓ Igs, observed as a SCID Severe combined immunodeficiency (SCID) Molecular Defect: Defect in common γ of IL-2 receptor (present in receptors for IL-4, 7, 9, 15), X-linked (B cells and T cells can't talk to eachother) -OR- Adenosine deaminase deficiency (B cells and T cells aren't made at all) -OR- Rag1 or rag2 gene nonsense mutations (Total absence B & T cells) Symptoms: Chronic diarrhea, skin, mouth & throat lesions, opportunistic infections, ↓ circulating LC, cells unresponsive to mitogens Wiskott-Aldrich syndrome Molecular Defect: X- linked Symptoms: ↓ response to bacterial polysaccharides, ↓ IgM, gradual ↓HMI and CMI, thrombocytopenia and eczema Ataxia telangiectasia Molecular Defect: Defect in kinase involved in cell cycle Symptoms: Ataxia, telangiectasia (broken blood vessels), deficiency of IgA, IgE