L7 defective immunity Flashcards
PID
manifested when?
why this time?
High rate?
SCID
deficiencies in what?
typically demonstrate what?
characterized by?
at risk for what?
ADA
Genetics?
causes?
essential metabolic function of?
leads to?
Most common form of SCID?
genetics?
what is affected?
Jak3
genes?
defect in what?
DGS
what deficiency?
from what?
key biochem feature?
what organ affected?
Facial abnormal
outflow tract defect in heart
recurrent infections
cadiac effects fosus of management
Deficit in thymic functions (lack of T cells)
opportunistic infections (sim aids infant)
MCH class I deficiency
caused by?
what doesnt work?
what does?
Bare lymphocyte syndrome
what is missing?
mutation where?
Wiskott-aldrich syndrome
genetics?
levels of different immune cells?
what is messed with here?
Infants?
- infants present with
- bleeding circumcision site
- bloody diarrhea
- excessive bruising
- infection encapsulated bacteria
- at risk for
- autoimmune
- cancer
IPEX
ALPS
X-linked bruton Agammaglobulinemia
Deficiency in what?
defect in what?
level of different cells?
lymphoid organs in which B cells proliferate are poorly developed or absent
Autosomal recessive Agammaglobulinemia
Common Variable immune deficiency (1 of 2)
associated with?
rate?
genetics?
diagnosis age?
Onset?
levels of cells?
Common Variable immune deficiency
all patients have?
1/3 have?
caused by?
what other defic?
IgA deficiency
symptoms?
prevalance by gender?
Hyper IgM syndromes (HIGM)
characterized by?
normal what? low what?
Genetics?
cell levels?
HIGM
DIFFERENCE BETWEEN MEN AND WOMAN
Isolated IgG subclass deficiency
defects in what?
symptoms?
low levels in children?
Transient Hypogammaglobulinemia of infancy
cell levels?
what happens?
increased risk of what?
