Miscellaneous Flashcards
1
Q
GOLD Stages
A
2
Q
A
Bronchiectasis
Bronchiectasis is often divided into CF and non-CF bronchiectasis
3
Q
Classification of Interstitial Lung Disease
A
4
Q
What ILD is associated with rheumatic disease?
A
UIP pattern in rheumatic disease portends the worst prognosis, with a 5-year mortality of > 50%. It is most commonly seen in rheumatoid arthritis.
5
Q
“Crazy paving”
A
Pulmonary alveolar proteinosis (PAP)
PAP results from surfactant accumulation and alveolar macrophage dysfunction
Three types of PAP:
- Primary: disruption of GM-CSF signaling either by autoantibodies to GM-CSF or mutations of GSF2RA or CSF2RB (GM-CSF receptor subunits).
- Secondary: Underlying disease (hematological disease, in particular. myelodysplastic syndromes). GATA2 deficiency has AD inheritance with diverse presentations, including “MonoMAC” immune deficiency with the absence of circulating monocytes, NK cells, and B cells.
- Congenital: Mutations in genes involved in surfactant production (SFTPB, SFTPC, ABCA3, NKX2-1)
6
Q
ILD associated with primary immunodeficiency
A
- ILD occurs much more frequently in CVID relative to XLA or X-linked and autosomal recessive hyper IgM
- ILD occurs more frequently in monogenic immune dysregulation disorders associated with antibody deficiency (activated PI3 kinase syndrome, a gain of function of STAT3, and deficiency of CTLA-4 and LRBA)
7
Q
A
8
Q
SERPINA1
A
alpha1 -antitrypsin deficiency
An imbalance between protease and antiprotease activity
9
Q
A