Congenital Immunodef D/Os Flashcards
1
Q
Bruton Agammaglobilinemia
A
Boys, B cell def, Bacterial infxns
low levels of ALL Igs
NO B CELLS on smear
2
Q
DiGeorge Sx = Thymic aplasia
A
NO T CELLS
no PTH
- chrom 22q11 del
- congenital heart/great vessels defects
3
Q
SCID
A
- severe recurrent infxns - viral, fungal, bacterial
- chronic diarrhea
- FTT
- NO THYMIC SHADOW on newborn CXR
- NO LIVE VACCINES!!!!
4
Q
Wiskott Aldrich Sx
A
WAITER:
Wiskott Aldrich Immunodef Thrombocytopenia and purpura Eczema Recurrent pyogenic infxns
5
Q
Ataxia-telangiectasia
A
- IgA def
- cerebellar ataxia and poor smooth pursuit
- telangiectasias of face > 5yo
- increased cancer: lymphoma, acute leukemia
- increased AFP if >8mos
6
Q
IgA def
A
- sinus and lung infxns and GIARDIA!!!
- atopy, asthma
- anaphylaxis to blood transfusions and blood pdts
7
Q
Chronic granulomatous Dz
A
- no NADPH oxidase activity
- catalase organisms: S aureus, E coli, Klebsiella, Aspergillus, Candida
- Negative NBT test (remains yellow)
- ppx TMP-SMX
- IFN-alpha helps
8
Q
Chediak-Higashi Dz
A
defective phagocyte lysosome
-PMNS with giant cytopasmic granules!!! w/ no degradative enzyme
- partial albinism
- recurrent resp tract and skin infxns
- neuro d/os
9
Q
Job Sx
A
Hyper E syndrome
- deficient IFN-gamma
- PMNs not respond to chemotactic stimuli
- HIGH IgE and eosinophils
- eczema
- recurrent cold Staph aureus abscesses
- coarse facial features - broad nose, frontal bossing, deep set eyes, doughy skin
-2 rows of teeth
10
Q
Leukocyte adhesion Sx
A
abnl integrins – phagocytes cannot exit circ
-delayed sep of umbilicus
11
Q
Chronic mucocutaneous candidiasis
A
T cell dysfxn
-Rx: antifungals
12
Q
C3 deficiency
A
recurrent infxns w/ encapsulated bacteria shortly after birth
gonococcal, meningococcal
13
Q
Complement overconsumption found in…
A
vasculitis, GN, certain CT dz eg SLE
-think about Ab-antigen complexes
