Figure 1.
Clinical information on patients. (A) Immunodeficiency patient. (i) Timeline of complications. (ii) Leukocyte and lymphocyte subpopulations at 48 years old. (iii) Computed tomography scan of the lungs at 50 years old showed “crazy paving” as a dominant feature with diffusely distributed ground glass opacities and thickening of the interlobular septa. Additionally, bronchiectasis and reticulations were seen. All findings are compatible with a chronic interstitial lung disease seen in alveolar proteinosis. (iv) Lung biopsy sample with protein rich exudates (line), interstitial broadening with fibroblast proliferations and scattered lymphocytes (spacing line), and hyperplasia of type II pneumocytes (arrowhead). Patient age 50 years old. Hematoxylin and eosin stain, magnification ×10; Olympus BX-51 microscope and Zeiss AxioCamMR3 camera. (B) Inherited AML/MDS family. (i) Inherited AML/MDS pedigree. Circle, female; square, male; filled red circles, history of AML/MDS; pale blue box, history of thrombocytopenia; blue striped box, normal blood counts (no further workup); unfilled boxes, individuals reported to have normal blood counts. II-1 and III-2 had ptosis. “( )”, adopted-out of the family; “+”, GATA2 wild-type; “-”, p.Thr117= GATA2. (ii) Dysplastic megakaryocytes characterized as mononuclear and with separated nuclear lobes. Pre-PBSCT marrow aspirate from II-1. Wright-Giemsa stain, magnification ×40; Leica DM 2500 microscope and MC170 HD camera. COP, cryptic organizing pneumonia; DVT, deep vein thrombosis; HCV, hepatitis C virus; HPV, human papillomavirus; VIN, vaginal intraepithelial neoplasia.