Immune system conditions Flashcards
What immune response causes a maculopapular rash?
Kawasaki’s, juvenile idiopathic arthritis
What is Kawasaki disease?
Systemic vasculitis affecting children from 6mo to 4yrs
What are the clinical findings in Kawasaki disease?
High fever, conjunctivitis, red mucous membranes, lymphadenopathy, red/peeling oedematous palms and soles; also myocarditis/pericarditis, inflammation of BCG scar, high inflammatory markers, platelet count rises in second week. Coronary aneurysms in a third of cases
What is the treatment of Kawasaki disease?
IV immunoglobulin within the first 10 days. Aspirin reduces risk of thrombosis
What is the presentation of T cell primary immune deficiency?
Viral and fungal infections with failure to thrive
What is Wiskott Aldrich syndrome?
T cell defects with thrombocytopaenia and eczema. X-linked
What is DiGeorge syndrome?
Deletion of a section of chr22. Maldevelopment of 5th brachial arch- heart palatal and facial defects, absence of thymus and hypocalcaemia
What is Duncan syndrome?
X linked condition with inability to make a normal response to EBV. Killed by initial infection or develop secondary lymphoma.
What is ataxia telangectasia?
Defect in DNA repair. Presents with cerebellar ataxia, developmental delay and T cell defects
What is the presentation of B cell defects?
Apparent beyond infancy due to passively acquired maternal antibodies. Severe bacterial infections
What is X linked agammaglobulinaemia?
Abnormal tyrosine kinase gene meaning abnormal B cell maturation
What is common variable immune deficiency?
B cell deficiency with a high risk of AI disorders and malignancy
What is Hyper IgM syndrome?
B cells prevented from switching to IgG and IgA
What is the most common primary immune defect?
Selective IgA deficiency. Usually asymptomatic. May have recurrent ENT/resp infections
What is the presentation of neutrophil defects?
Recurrent bacterial infections andinvasive fungal infections. Granulomas form from chronic inflammation
