T cell disorders Flashcards
Di George syndrome
22q11
microdeletion in portion chr 22
Di George syndrome - leads to
developmental defect in 3rd pharyngeal pouch and 3rd branchial cleft
consequence is incomplete development thymus gland –> inability to create functional T cells
Di George syndrome - CATCH 22
congenital heart disease abnormal facies thymus gland underdeveloped cleft palate hypoparathyroidism --> low Ca 22nd chromosome
Purine Nucleoside Phosphorylase Deficiency
without PNPase, dGTP builds up which is toxic to T cells
–> low levels T lymphocytes
normal B and Ig levels
Purine Nucleoside Phosphorylase Deficiency - inheritance pattern
autosomal recessive
Wiskott-aldrich syndrome
x-linked recessive condition
mutation WAS gene
abnormal functioning T cells
Wiskott-Aldrich Syndrome - features
thrombocytopenia immundeficiency neutropenia eczema recurrent infections chronic bloody diarrhoea
Ataxic Telangiectasia
autosomal recessive
affecting gene ATM serine/threonin kinase protein on chroomosome 11
Ataxic Telangiectasia - features
low T cells + Ig ataxia telangiecstasia predisposition to haem cancers slow growth accelerated ageing liver failure
