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Immune Deficiencies
| Description | Disease |
|---|---|
| Female with increased IgE levels and eczema | Job's hyper-IgE syndrome (Wiskott-Aldrich is x-linked, Job's is autosomal) |
| Male with increased IgE levels and eczema; normal platelet count | Job's hyper-IgE syndrome |
| Patient with increased IgE levels and eczema; thrombocytopenic purpura | Wiskott-Aldrich syndrome |
| Absence of thymic shadow on CXR; recurrent viral, bacterial, fungal, and protozoal infections | Severe combined immunodeficiency (DiGeorge only has low T cells, SCID has low T & B cells) |
| Decreased IgA; recurrent sinopulmonary infections; increased risk of cancer | Common variable immunodeficiency (this may present with any combination of deficient immunoglobulins) |
| X-linked CD40 ligand mutation; B cell defect | Hyper-IgM syndrome |
| X-linked tyrosine kinase gene mutation; B cell defect | Bruton's agammaglobulinemia |
| Severe pyogenic infections at young age; large quantities of a pentameric immunoglobulin in the serum; other immunoglobulin levels are decreased | Hyper-IgM syndrome |
| Candida albica infections of skin and mucous membranes; T-cell dysfunction | Chronic mucocutaneous candidiasis |
| Kinase defect leading to cerebellar problems, spider angiomas, and recurrent sinopulmonary infections | Ataxia-telangiectasia |
| Defect in B-cell maturation; increased risk of comorbid autoimmune disease; labs show normal number of B cells, but low plasma cells | Common variable immunodeficiency |
| Failure of 3rd and 4th pharyngeal pouches to develop | DiGeorge syndrome |
| Most common primary antibody deficiency; patients may get sinus & lung infections, milk allergies, and diarrhea | Selective IgA deficiency |
| Recurrent viral and fungal infections, hypocalcemia, velocardiofacial syndrome | DiGeorge syndrome |
| Isotype switching defect; commonly occurs with celiac disease | Selective IgA deficiency |
| 22q11 deletion; absence of thymic shadow on CXR | DiGeorge syndrome |
| IL-2 chemokine receptor mutation leading to recurrent viral, bacterial, fungal, and protozoal infections | Severe combined immunodeficiency (x-linked form, which is more common) |
| Adenosine deaminase deficiency | Severe combined immunodeficiency (autosomal recessive form) |
| ATM gene defect, which codes for DNA repair enzymes | Ataxia-telangiectasia |
| Common gamma chain defect leading to a defective IL-7 receptor; failure to synthesize MHC-II antigens | Severe combined immunodeficiency |
| Commonly occurs with tetralogy of Fallot or truncus arteriosus | DiGeorge syndrome (mnemonic is "CATCH-22": Cardiac abnormalities, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia/Hypoparathyroidism, 22q11 deletion) |
| Normal pre-B cells in the bone marrow, but not in the periphery; recurrent bacterial infections after 6 months | Bruton's agammaglobulinemia |
Created by:
kesselmb
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