Term
| B cell deficiency causing recurrent respiratory tract bacterial inefctions in boys older than 6 months of age? |
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Definition
| X-linked agammaglobulinemia |
|
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Term
T cell deficiency due to failure of development of third and 4th pharyngeal pouches?
90% have 22q11 deletion seen with FISH |
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Definition
| Thymic aplasia (DiGeorge syndrome) |
|
|
Term
| Triad of failure to thrive, chronic diarrhea, and recurrent viral, bacteril, fungal and protozoal infections. |
|
Definition
| severe combined immunodeficiency |
|
|
Term
-Auto recessive disease characterized by IgA deficiency, cerebellar dysfunction and conjunctival telangiectasis?
-Increased AFP in kids >8
-Radiation sensitivity
-Increased risk for lymphoma and acute leukemias |
|
Definition
|
|
Term
| XL deficiency of (NADPH) oxidase activity, resulting in an im[aired neutrophil respiratory burst and leading to increased bacterial and fungal infections |
|
Definition
| chronic granulomatous disease |
|
|
Term
-Negative nitroblue tetrazolium test
-Susceptile to organisms with catalase (S. aereus, E. coli, Klebsiella, Aspergillus, and Candida) |
|
Definition
| chronic granulomatous disease |
|
|
Term
| recurrent bactterial infections early in life due to a defect in CD40 ligand and prevents B cells class switching? Can be X-linked, AR, or associated with a NEMO deficiency. Increased IgM, decrease in all other Ig's. |
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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(IFN gamma), elevated IgE, and triad of eczema, , noninflamed staph absecesses, and course facial features? also may have retained primary teeth |
|
Definition
|
|
Term
| XL recessive disease characterized by recurrent infections, thrombocytopenia/purpura, eczema? |
|
Definition
|
|
Term
-Mutation of Btk tyrosine kinase gene resulting in the underproduction of all class of Ab's
-X linked
-recurrent bacterial infections after 6 months |
|
Definition
| XL agammaglobulinemia (Bruton's) |
|
|
Term
| adenosine deaminase deficiency |
|
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, Atopy, Autoimmune disease and Anaphylaxis to IgA products such as blood transfusions. |
|
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
| no thymic shadow on X-ray |
|
Definition
| severe combined immunodeficiency and DiGeorge syndrome |
|
|
Term
| increased IgA, normal IgE and decreased IgM levels(capsule polysacharides of bacteria? |
|
Definition
|
|
Term
| Hypogammaglobulinemia commonly due to failure of T cell mediated B cell maturation? |
|
Definition
| common variable immunodeficiency |
|
|
Term
| appear healthy but suffer from recurrent sinus and lung infections, associated with atopy, asthma, and may have possible anaphylaxis to blood transfusions and blood products |
|
Definition
|
|
Term
| T cell dysfunction leading to C. Albicans infections |
|
Definition
| Chronic mucocutaneous candidiasis |
|
|
Term
| T cell deficiency associated with mycobacterial infections |
|
Definition
| IL-12 receptor deficiency |
|
|
Term
| Abnormal integrins that result in inability of phagocytes to exit circulation. May see delayed separation of umbilical cord |
|
Definition
| LAD or Leukocyte Adhesion Deficiency Syndrome |
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