Immunodeficiency Flashcards
B cell immunodeficiency dz
- Brutons
- IgA def
- Hyper IgM
T cells immunodeficiency dz
digeorge
HIV( aquired)
phagocytosis dz 3
- chronic granulomatous dz
- leukocyte adhesion def
- chediac hidashi
3 dz that are from problem with both T and B cells
wiskott aldrich
Ataxic telectantasia
SCID mega aids w/o virus
Complement dz
C1 esterase deficiency (edema)
C9 and C5 mac attack predispose to infxn
when think pt has a immuno deficiency?
- FTT with diarrhea
- recurrent infxn w/o immunity
- severe infection when typically not severe
- unusual pathogens
when do immuno deficiency dz show up?
after 6 months once mom’s antibodies wear off and baby isnt making their own
workup first two steps
- CBC with diff
- quantitative IgG level (show you G,A,M)
- then dz specific
big idea main immunodef treatment goals
- avoid antigens kid cant fight off
2. give them what they dont have
Bruton’s aka
X linked A Ig -enemia
Brutons def
x linked dz
no immunoglobulins
B cells, Brutons, Boys
6 mo old sinopulmonary infections, boy
Brutons XLA
Brutons workup
- CBC normal
- quant Ig: zero
- flow cytometry shows no B cells
- confirm dx with RTK gene
burton’s tx
schedule Iv IG treatments lifetime
- or BM transplant yet usually too severe
combined variable immunodeficiency def
mild form of burtons
recurrent sinopulmonary dz in older kid… think?
CVID
CVID workup
CBC normal
QIG decrease in 2/3 of the Ig
less severe burtons
CVID tx
no BM transplant necessary
schedule IV Ig
IgA deficieny patho
low IgA cannot fight mucosal infections
sinopulmonary infxn
GI bugs
or asx till get blood transfusion then anaphylaxis
IgA deficiency
IgA dx
cbc normal
quant low IgA yet higher igM and IgG
IgA tx
- no tx
- watch out for anaphylaxis for blood transfusions
- screen future blood transfusions and remove IgA (looks like a foreign protein to body = anaphylaxis)
HyperIgM
B cell deficiency cannot convert IgM (nonspecific) to IgG (specific)
hyper IgM workup
cbc normal
quant Ig: low IgA, low IgG, high IgM
hyper IgM tx
none
XLA vs CVID
young 6 mo vs older child / teen
Digeorge syndrome caused by
22q11.2 deletion gene
problem of 3rd pharyngeal pouch
Digeorge sx
- wide spaced eyes
- low set ears
- absent thymic shadow on xray
- small face
digeorge common infxn
fungal infxn or PCP pneumonia
Dx digeorge
clinical
Cbc: reduced absolute lymphocyte count
Digeorge tx
tmp/smx prophylaxis PCP
IvIG bridge to thymic transplant
digeorge f/u
watch out for hypocalcemia due to loss of PTH hormone
sx: seizure, tetany
wiskott aldrich patho
x linked - boys
ezema, low plts, normal infections boy
wiskott aldrich
WA dx
CBC: low WBC, low plt
QIgG: big IgM and IgG
WA tx
bone marrow transplant
ataxia, telectantisia, ID, starts prior age 5
Ataxia telangectasia
AT f/u
increase risk of:
- leukemia
- lymphoma
- sensitive to radiation (including xrays)
bubble boy
SCID
SCID patho
no immune sx
- no b cells
- no t cells
- def adenosine deoninate
ID immediately post birth, any exposure = infxn
SCID
like mega aids but HIV negative
SCID dx
CBC: low WBC
QIG: zero
SCID tx
isolation
tmp/smx
BM transplant
chronic granulomatis dz pathophys
no respiratory burst
macrophage problem ..can eat bacteria but cannot kill it if it is catalase +
staph abscesses
think chronic granulomatis dz
CGD dx
nitro blue
CBC: increased WBC
QIG: elevated IGM, IGG
CGD tx
BMT
leukocyte adhesion def
WBC cannot get out of the blood stream to get onto cell wall etc.
high fever, high WBC yet no pus, delayed seperation of the cord
LAD
LAD tx
bone marrow transplant
CH
autosomal recessive dz
giant granules in neutrophils PMN
dx
CH associated with
neuropathy
albinoism
neutropenia
complement
C1 esterase def
angioedema
pt with angioedema h/o complement def
give FFP
pt with neisseria
think C5-9 mac attack