Exam 2 Diseases Flashcards
XL SCID mutation
Xq13.1 IL-2 Receptor
XL SCID mutation downstream effect
IL-7R can’t form properly, so IL-7 can’t form
XL SCID treatment
Pooled gamma globulins
DiGeorge syndrome mutation
22q11.2 thymic aplasia
Which disease likely not inherited
DiGeorge (90% de novo deletion)
DiGeorge clinical presentation
Cleft palate, craniofacial disorders
MHC deficiency - what are the two diseases
BLS I and BLS II
BLS I
MHC I deficiency
BLS II
MHC II deficiency
BLS I patients are more prone to
intracellular parasites, viral infections
BLS I caused by mutation in
TAP I
BLS II is a form of
SCID
What is not functional in BLS II
Th1 and Th2
CGD, Bridges Good syndrome, Quie syndrome is a ____ deficiency
Phagocyte
CGD/Quie syndrome causes
neutrophil dysfunction
What two diseases are forms of SCID
BLS II, Quie syndrome
Kostmann syndrome inheritance
Autosomal recessive
What is common with Kostmann syndrome
Periodontitis
Chediak Higashi inheritance
Autosomal recessive
What is common with Chediak Higashi
periodontitis (also albinism would be present)
Severe congenital neutropenia inheritance
autosomal dominant
Common abscesses
Bacterial sepsis
Fatal
Requires BMT
Severe congenital neutropenia
