Figure 4.

Hematologic, pulmonary, and autoimmune features overlap in genetically defined TBD families. (A-C) Pedigrees of families with ILD and autoimmune features. A circle represents a woman, and a square represents a man. Roman numerals indicate generations (I, II, III). A slash through the circle or square indicates the person is deceased. The proband is indicated by the arrow. The variant carrier status is mut/+ for carriers and +/+ for wild type. The exact disease/phenotype is detailed below the symbol. The pedigree number and the variant found in this family are designated above the pedigree. (D) Lung biopsy specimen of confirmed TBD variant carrier (669.III.1) with diffuse lymphoplasmacytic infiltrates. Depicted are fibroblastic foci with a diffuse lymphoplasmacytic infiltrate (magnification ×40, hematoxylin and eosin [H&E] staining). (E) Bone marrow biopsy specimen of confirmed TBD variant carrier (669.III.1) with diffuse lymphoid aggregates. This core biopsy sample shows clusters of lymphocytic aggregates (magnification ×10, H&E staining). (F) Venn-Euler diagram of the overlap of hematologic, pulmonary, and autoimmune phenotypes observed in confirmed variant carriers. The hematologic phenotype was divided into 5 different categories: MDS/AML (dark brown), macrocytosis/macrocytic anemia (red), neutropenia (teal), thrombocytopenia (purple), and AA (peach); the pulmonary phenotype observed consisted of ILD (blue). The autoimmune overlap with ILD subtypes is highlighted in green. The number within the circles represents the number of patients with this disease/combination of phenotypes.