Immuno Flashcards
Bare lymphocyte syndrome (2 types)
T1= absent MHC 1
T2= Absent MHC2
Assoc w/ sclerosing cholangitis, hepatomemegaly + jaundice by 3months
DiGeorge
CATCH22 - 22q11
Normal B cells + IgM
Kostamnn
Severe congenital neutropoenia
NBT +ve
LAD
Neutrophilia + NBT+ve
Delayed cord separation
Cyclical neutropoenia
Neutropoenia for 6 days every 3 week Aut dom (ELA2 mut)
CGD
NBT -ve, NADPH oxidase def
X linked
Wiskott-Aldrich
Mut in WASp
Low IgM, w/ High IgA+G
Epistaxis + eczema
X linked
Reticular dysgenesis
Absolute def in granulocytes + lymphos
Severe neonatal sepsis
Chediak Higashi
Protein trafficking defect (microtubules)
Neutropoenia, defective 1o haemostasis+ albinism
Complement deficiencies (classical)
CH50 test abnormal
Assoc w/ SLE
Complement deficiencies (alt)
AP50 test abnormal
Predisposes to infection w/ encapsulated bacteria
Complement deficiencies (common)
Both AP50 and CH50 tests abnormal
assoc w/ MPGN
Hereditary angioedema
C1 inhibitor deficiency
POEMS
Polyneuropathy, Papilloedema, Pulmonary disease
Organomegaly, Oedema
Endocrinopathy
M protein
Skin abnormalities (hyerpig + hypertrich)
HLA DQ2
Coeliac (two eight or not to eat?)
HLA B27
Ank spond
HLA DR2
Goodpasture’s (DR15)
HLA DR3
SLE, Grave’s, MG + T1DM
HLA DR4
RA + T1DM
PTPN22
RA, SLE + T1DM
CTLA4
SLE, T1DM, Grave’s
Anti Rh blood group Ag Ab
AIHA
Anti RBC Ag Ab
AIHA
Anti GlpIIa/IIIb
ITP
pANCA
Churg Strauss (eMPA), MPA
Anti GBM (T4 collagen)
Goodpasture’s (T1 RPGN)
Anti gastric parietal cell + Anti IF
Pernicious Anaemia