Immunodeficiencies - WLB Flashcards
Which immune deficiency is associated with anaphylaxis on exposure to blood products with IgA?
Selective IgA deficiency
Which immune deficiency is associated with coarse facial features, abscesses, eczema?
Autosomal Dominant Hyper IgE Syndrome (Job Syndrome)
Which immune deficiency is associated with thrombocytopenia, purpura, infections, and eczema?
Wiskott-Aldrich Syndrome
WAITER: Wiskott Aldrich Immunodeficiency Thrombocytopenia Eczema Recurrent infections
Which immune deficiency is associated with delayed separation of the umbilicus?
Leukocyte adhesion deficiency (type I)
Which immune deficiency is associated with neurologic defects, partial albinism, and recurrent infections?
Chediak-Higashi Syndrome
A young child has recurrent lung infections and granulomatous lesions. This is most likely due to what underlying defect in neutrophils?
Defect of NADPH oxidase in Chronic Granulomatous Disease
A child with an immune disorder has recurrent staphylococcal abscesses. It is found that the neutrophils fail to respond because the chemotactic stimuli are deficient. What is the most likely diagnosis?
Hyper IgE Syndrome (Job Syndrome)
STAT3 mutation => decreases Th17
Which immune deficiency is associated with neutrophils failing to respond to chemotactic stimuli?
Hyper IgE Syndrome (Job Syndrome)
OR
Leukocyte Adhesion Deficiency
Which immune deficiency is associated with adenosine deaminase deficiency?
Severe Combined Immunodeficiency
Which immune deficiency is associated with failure of endodermal development?
Thymic aplasia (DiGeorge Syndrome)
Which immune deficiency is associated a with defective tyrosine kinase gene?
X-linked (Bruton) Agammaglobulinemia
Defect in BTK gene
Which immune deficiency is associated with high levels of IgE and eosinophils?
Hyper IgE Syndrome (Job Syndrome)
