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Table 2 Clinical detail of the patients with hematologic PAP

From: GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

No

Sex

Start pulm. dis. (y)

Course pulm. dis.

Chest CT scan

Treatments

Age at last follow up (y)

Out-come

Final diagnosis and likely cause of PAP

1

F

64

Chronic respiratory insufficiency, PAP, inactive TBC, ARDS

Diffuse ground glass with clear interstitial septal thickening (crazy paving pattern), bilateral alveolar consolidations

Oxygen, WLL (2)

66

dead

CML, karyotype 46XX t(9,22) (q34,q11) 25, CD 2+, renal failure

2

M

34

Respiratory insufficiency, recurrent interstitial pneumonia (HSV); bron-chiolitis obliterans; PAP

Interstitial thickening and destructions in both lungs, crazy-paving pattern

Prednisolone, azathioprine, oxygen, WLL (3)

37

dead

Monocyte defect, M. avium intracellulare infection, GATA2 mutation (p.Y377D)

3

M

0.6

Infection, tachydyspnea (7 months old), hypoxia, PAP (1.7 y)

Diffuse ground glass, interstitial markings, emphysema

Oxygen, immune-suppressive drugs, methylprednisolone, WLL (3)

3, lost on follow up

sick-same

Juvenile myelo-monocytic leukemia, Monosomy 7, 2x SCT, intestinal, hepatic, cutaneous GVHD

4

F

38

Dyspnea, clubbing, respiratory insufficiency, cholesterol pneumonia, PAP

Diffuse ground glass, interstitial markings, scattered alveolar opacities

Oxygen, no WLL

43, lost on follow up

sick-same

Monocyte defect, cholesterol pneumonia, GATA2 mutation (p.R398W)

5

F

6

PAP

Ground glass, interstitial pneumonia

Oxygen, no WLL

7

sick-better

C-acute lymphoblastic leukemia

6

F

59

Dyspnea, respiratory insufficiency, PAP

Diffuse ground glass, interstitial septal thickening (crazy paving), markedly basal, with traction bronchiectasis

Oxygen, WLL (1)

59

dead

MDS

7

F

4

Recurrent airway infections; chronic hypoxic failure, PAP

Alveolar opacities in almost all lung areas, see Fig. 2

Oxygen, WLL (14)

7.3

healthy

MDS, DiGeorge Syndrome Type 2, Monosomy 7, Trisomy 8 (SCT)

8

M

0.33

CMV infection, respiratory failure, PAP

Ground glass opacities with interstitial septal thickening (crazy paving pattern), alveolar consolidations bilaterally in the lower parts

Oxygen, WLL (11)

2

sick-better

Sideroblastic anemia

  1. Abbreviations: ARDS, acute respiratory distress syndrome; CML, chronic myeloid leukemia; CMV, cytomegalovirus; dis., disease; GVHD, graft versus host disease; HSV, herpes simplex virus; MDS, myelodysplastic syndrome; PAP, pulmonary alveolar proteinosis; pulm., pulmonary; SCT, stem cell transplant; TB, tuberculosis, WLL, whole lung lavage; y, years; number in (), number of WLL