Term
| C1 esterase inhibitor deficiency |
|
Definition
| hereditary angioedema. increased bradykinin. ACEi contraindicated. |
|
|
Term
|
Definition
| recurrent pyogenic sinus and respiratory tract infections. increased susceptibility to type III hypersensitivity reactions. |
|
|
Term
|
Definition
| susceptibility to Neisseria |
|
|
Term
|
Definition
| paroxysmal nocturnal hemoglobinuria |
|
|
Term
| Brutons agammaglobulinemia |
|
Definition
| X-linked recessive. defect in BTK tyrosine kinase. no B cell maturation. |
|
|
Term
| Brutons agammaglobulinemia |
|
Definition
| X-linked recessive. defect in BTK tyrosine kinase. no B cell maturation. |
|
|
Term
|
Definition
| anaphylaxis to IgA containing blood products. Sinopulmonary infections, GI infections, autoimmune disease. |
|
|
Term
| Common Variable Immunodeficiency |
|
Definition
| defect in B cell maturation. normal number of B cells but decreased plasma cells and low immunoglobulin. |
|
|
Term
|
Definition
| Thymic aplasia. recurrent fungal and viral infections. |
|
|
Term
| IL-12 receptor deficiency |
|
Definition
| decreased Th1 response. disseminated mycobacterial infection. decreased IFN gamma. |
|
|
Term
|
Definition
| High IgE. cold staph abscesses on face. retained primary teeth. Th1 cells fail to produce IFN-gamma. |
|
|
Term
|
Definition
| High IgE. cold staph abscesses on face. retained primary teeth. Th1 cells fail to produce IFN-gamma. |
|
|
Term
|
Definition
| adenosine deaminase deficiency. failure to thrive. recurrent viral, bacterial, fungal, protozoal infections. |
|
|
Term
|
Definition
| failure of DNA repair enzymes. cerebellar defects, spider angiomas, IgA deficiency. increased AFP. |
|
|
Term
|
Definition
| defective CD40L on Th cells, so inability to class switch. |
|
|
Term
|
Definition
| X-linked. T cells unable to reorganize actin cytoskeleton. Thrombocytopenic purpura, immunodeficieny, eczema |
|
|
Term
|
Definition
| defect in CD18 integrin. recurrent bacterial infections, absent pus, delayed separation of umbilical cord |
|
|
Term
|
Definition
| defect in lysosomal trafficking regulator. microtubule dysfunction. recurrent pyogenic infections, partial albinism, peripheral neuropathy. |
|
|
Term
| Chronic Granulomatous Disease |
|
Definition
| NADPH oxidase deficiency. susceptible to catalase-positive organisms. negative nitroblue tetrazolium dye test. |
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