Miscellaneous

Question 1

GOLD Stages

Answer 1

Question 2

Answer 2

Bronchiectasis

Bronchiectasis is often divided into CF and non-CF bronchiectasis

Question 3

Classification of Interstitial Lung Disease

Answer 3

Question 4

What ILD is associated with rheumatic disease?

Answer 4

UIP pattern in rheumatic disease portends the worst prognosis, with a 5-year mortality of > 50%. It is most commonly seen in rheumatoid arthritis.

Question 5

“Crazy paving”

Answer 5

Pulmonary alveolar proteinosis (PAP)

PAP results from surfactant accumulation and alveolar macrophage dysfunction

Three types of PAP:

1. Primary: disruption of GM-CSF signaling either by autoantibodies to GM-CSF or mutations of GSF2RA or CSF2RB (GM-CSF receptor subunits).
2. 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.
3. Congenital: Mutations in genes involved in surfactant production (SFTPB, SFTPC, ABCA3, NKX2-1)

Question 6

ILD associated with primary immunodeficiency

Answer 6

• 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)

Question 7

Answer 7

Question 8

SERPINA1

Answer 8

alpha1 -antitrypsin deficiency

An imbalance between protease and antiprotease activity