Flashcards in Immunology pathology Deck (12)
Defect in BTK leading to no B cell maturation in boys.
Look for recurrent bacterial infections after the age of 6 months (mothers immunoglobulin wears off)
22q11 deletion failure to develop 3rd and 4th pharyngeal pouches thus absent thymus and parathyroids.
Leads to tetany, decreased T cells, decreased PTH, decreased calcium.
No thymic shadow on CXR
22q11 detected by FISH
IL-12 receptor deficiency
Decreased TH1 response autosomal recessive.
Autosomal dominant hyper IgE syndrome
Deficiency in Treg cells due to STAT3 mutation.
Cannot recruit neutrophils to infections.
Severe combined immunodeficincy (SCID)
Deffective IL-2R gamma chain.
Failure to thrive, lack of T cells no thymic shadow.
Defects ATM gene
Cerebellar defects, spider angiomas and IgA deficiency
Wiskott Aldrich syndrome
Mutation in WAS gene T cells cannot reorganize actin cytoskeleton leading to thrombocytopenic purpura, eczema, and recurrent infections.
Chronic granulomatous disease
Deficiency in NADPH oxidase
Makes pt more suceptible to catalse positive organsms.