Term
| B cell deficiency causing recurrent respiratory tract bacterial inefctions in boys older than 6 months of age? |
|
Definition
| X-linked agammaglobulinemia |
|
|
Term
| T cell deficiency due to failure of development of third and 4th pharyngeal pouches? |
|
Definition
| Thymic aplasia (DiGeorge syndrome) |
|
|
Term
| Defective B and T cells, most cases caused by XL recessive mutations in y-chain of cytokine receptors OR auto recessive mutations in adenosine deaminase? |
|
Definition
| severe combined immunodeficiency |
|
|
Term
| Auto recessive disease characterized by IgA deficiency, cerebellar dysfunction and conjunctival telangiectasis? |
|
Definition
|
|
Term
| XL deficiency of niotinamide adenine dinucleotide phosphate (NADPH) oxidase activity, resulting in an im[aired neutrophil respiratory burst and leading to increased bacterial and fungal infections |
|
Definition
| chronic granulomatous disease |
|
|
Term
| XL deficiency of niotinamide adenine dinucleotide phosphate (NADPH) oxidase activity, resulting in an im[aired neutrophil respiratory burst and leading to increased bacterial and fungal infections |
|
Definition
| chronic granulomatous disease |
|
|
Term
| recurrent bactterial infections early in life due to a defect in CD40 ligand and prevents B cells class switching? |
|
Definition
|
|
Term
| Auto recessive microtubule defect resulting in decreased phagocytosis, partial albinism and neuropathy? |
|
Definition
|
|
Term
| Auto recessive syndrome characteriezed by failure of neutrophil chemotaxis associated eczema, elevated IgE, noninflamed staph absecesses? |
|
Definition
|
|
Term
| XL recessive disease characterized by recurrent infections, thrombocytopenia, eczema? |
|
Definition
|
|
Term
| Mutation of Btk tyrosine kinase gene resulting in the underproduction of all class of Ab's |
|
Definition
|
|
Term
| Defect in the receptor for IL-7 |
|
Definition
| severe combined immunodeficiency |
|
|
Term
| Associated with Staph aureus, Strep pneumoniae, and Haemophilus influenzae respiratory infections and persistent Giardia lamblia infections? |
|
Definition
|
|
Term
| Associated with recurrent GI and pulmonary infections |
|
Definition
|
|
Term
| Frequent viral and fugal inefctions in a patient with hypocalcemia due to low PTH levels? |
|
Definition
| Thymic aplasia (DiGeorge syndrome) |
|
|
Term
| Associated with tetany and congenital defects in the heart and aorta |
|
Definition
| Thymic aplasia (DiGeorge syndrome) |
|
|
Term
| small thymus devoid of lymphocytes, hypoplastic lymph nodes, and splenic white pulp |
|
Definition
| severe combined immunodeficiency |
|
|
Term
| increased IgA, normal IgE and decreased IgM levels |
|
Definition
|
|
Term
| Hypogammaglobulinemia commonly due to failure of T cell mediated B cell maturation? |
|
Definition
| common variable immunodeficiency |
|
|
Term
| Keratoconjunctivitis sicca or xerophthalmia, xerostomia, and evidence of other CT disease |
|
Definition
|
|
Term
| autoimmune inflammatory disorder associated with malignancy frequently caused muscle weakness |
|
Definition
|
|
Term
| autoimmune disease causing a heliotrope rash |
|
Definition
|
|
Term
| rapidly progessing diffuse fibrosis of skin and involved organs including the heart, GI, kidney, lunch, muscle and skin |
|
Definition
|
|
Term
| CREST syndrome of calcinosis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, telangiectasis |
|
Definition
|
|
Term
| autoimmune disease causing increased serum creatine kinase levels |
|
Definition
|
|
Term
| what is the most common cause of death due to scleroderma |
|
Definition
|
|
Term
| Which autoimmune disease of CT lacks renal involvement |
|
Definition
| mixed connective tissue disease |
|
|
Term
| Name the group of disorders characterized by extracellular deposition of protein in a B pleated sheet conformation. |
|
Definition
|
|
Term
| Which stain is sued to identiy the presence of amyloid in tissue that exhibits apple green bifringence under polarized light? |
|
Definition
|
|
Term
| which autoimmune disase of CT lacks renal involvement? |
|
Definition
| mixed connective tissue disease |
|
|
Term
| which molecular configuration is commone to all forms of amyloid? |
|
Definition
|
|
Term
| what is the effect of amyloidosis on the kidneys? |
|
Definition
| glomerular, peritubular, and vascular hyalinization |
|
|
Term
| what is the effect of amyloidosis on the spleen? |
|
Definition
| sago spleen (deposits in follicles) or lardaceous spleen (deposits in the pulp) |
|
|
Term
| What is the effet of amyloidosis on the liver? |
|
Definition
| hepatomegaly with amyloid deposition in the space of Disse |
|
|
Term
| What is the effect of amyloidosis on the the heart? tongue? |
|
Definition
heart = restrictive cardiomyopathy
tongue = hypertrophy due to amyloid deposition |
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