Quiz 1 Flashcards
(57 cards)
Isolated congenital asplenia
- due to ribosomal protein SA and laminin mutations
- increased susceptibility to encapsulated bacteria
- immunizations are important
Properdin deficiency
recurrent infections
Factor H or I deficiency
- unchecked complement activation
- renal disease and recurrent infections
C5-9 deficiency
Neisseria infections susceptibility
-meningitis and gonorrhea
Paroxysmal Nocturnal Hemoglobinuria
- PIGA gene mutation impairs HRF, protectin, and DAF function
- complement mediated RBC lysis, hemoglobinuria, symptomatic anemia, thrombosis
- Tx: eculizumab (anti-C5)
C3 deficiency
recurrent bad infections, Ag-Ab complex (lupus like) disease
Inappropriate complement activation
C5a, C3a, C4a mediated anaphylaxis
MBL deficiency
recurrent infections
C4A or C4B gene deficiency
propensity to develop SLE
genes located in MHC Class III area
C1INH deficiency
- Hereditary angioedema
- increases C2 kinin and bradykinin levles
- painless swelling that does not respond to antihistamines
C1INH treatment
- C1INH: Berinert, Cinryse, Ruconest
- bradykinin B2 receptor antagonist: icatibant
- Kallikrein inhibitor: Ecallantide
- 2nd line is fresh frozen plasma
C1INH Types
1: less C1INH
2: less functional C1INH
3: level and function are normal, females Facton XII gain of function triggers kallikrein-kinin system
acquired: anti-C1INH Ab, excessive C1 activation
IRAK4 or MyD88 deficiency
strep, staph, gram negative susceptibility in children
typically by age 14 adaptive immune system takes over
NEMO deficiency
aka IKK-gamma subunit deficiency
incontinentia pigmenti (worsening skin condition)
anhidrotic ectodermal dysplasia (conical teeth, skin, hair)
impaired Ab class switching
recurrent infections
Septic shock
due to systemic bacterial infection and TNF-alpha release
increased susceptibility with TLR4 mutation
UNC-93B deficiency
needed for TLR3, TLR7-9
increased susceptibility to HSV
Familial cold autoinflammatory syndrome 1
gain of function NLRP3 mutation (cryopyrin)
rash, fever, arthralgias following cold exposure
Tx: canakinumab (antiIL-1beta), rilanocept (IL1 inhibitor)
Chediak-Higashi syndrome
large cytoplasmic granules in neutrophils impede diapedisis
Chronic Granulomatous Disease (CGD)
deficiency in NADPH oxidase subunit impairs H2O2 production in neutrophils, prevents respiratory burst
- Sx: boils, abscesses, pneumonia, osteomyelitis
- typically X-linked recessive
- Susceptibility to: Staphyloccocus aureus, Aspergillus fumigatus, Serratia marcescens, Nocardia asteroides, Burkholderia cepacia
CH50
screens classical pathway defect
near 0 in C1-C8 deficiency
half normal in C9 deficiency
low in factor I or H deficiency
AH50
screen for alternative pathway defect
C3d
marker for classical pathway activation
Ba
marker for alternative pathway activation
C1q
detects immune complexes
