Clinical Science III & IV Flashcards
Familial Mediterranean fever syndrome is associated with mutations in what?
MEFV - codes for pyrin
What is the mutation associated with TNF receptor-associated periodic syndrome (TRAPS)?
TNFRSF1A - encodes the p55 TNF receptor
Which periodic fever syndrome has cervical adenopathy, elevated Igs, flairs with immunizations, and is due to a mutation in MVK?
Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS)
What is Muckle-Wells syndrome?
fever, urticarial rash, arthritis, deafness, amyloidosis
Which periodic fever syndrome is associated with aphthous stomatitis, cervical lymphadenitis and pharyngitis with very predictable timing of fevers?
PFAPA - periodic fever with aphthous stomatitis, pharyngitis and adenitis
What is Behcet’s disease
recurrent oral and genital ulcers, eye and skin lesions - associated with HLA-B51
In HIV, what T cell count indicates deficiency, suppression and competency?
less than 200, 200-499, more than 500
What should be used to test infants for HIV?
non-Ab based assays
What autoimmune disease is associated with muscle weakness and thymoma? What is the auto-Ab?
Myasthenia Gravis; ACh receptor
What infection and autoantibody is associated with Guillain-Barre syndrome?
campylobacter; Anti-GM1
What is the target for T cells in multiple sclerosis?
myelin sheath epitopes
What autoantibody is associated with Hashimoto’s thyroiditis?
anti-TPO and thyroglobulin
What is the autoantibody and subclass associated with Addison’s disease?
Adrenal cortex 21 hydroxylase Ab - IgG1
What gene is associated with both DM and Grave’s disease?
PTPN22
What antibody subclass is associated with Sjogren’s?
IgG4
