case_images: PMC5863442_01
case_images: Pedigree of the affected family. Arrow indicates the patient of discussion
case_images: 40364_2018_127_Fig1_HTML.jpg
case_images: PMC5863442_01_40364_2018_127_Fig1_HTML.jpg
case_images: Fig1
case_images: Additionally, her mother had 2 sisters ages 42 and 45, both of whom had anemia, chronic low blood counts, and autoimmune disease (Fig. 1).
case_images: Bone marrow biopsy showing increased fat and decreased cellularity with relative paucity of normal B-cells. a H&E (100x). b IHC CD138 (200x), occasional plasmacytoid reactive cells. c IHC CD3 (200x), numerous small immunoreactive cells. d IHC CD20 (200x), scattered small immunoreactive cells
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case_images: PMC5863442_01_40364_2018_127_Fig2_HTML.jpg
case_images: Fig2
case_images: A second bone marrow biopsy performed at age 20 (Fig. 2) showed a hypocellular marrow with mild erythroid and myeloid atypia and atypical megakaryocytes without increased myeloblasts or abnormal cytogenetics.
case_images: Flow cytometry of bone marrow and blood showed reduced percentages of B-cells with normal frequencies of T-cells. Top row of panels: bone marrow; middle and bottom row of panels: blood. Left panels: blood and bone marrow samples from patient. Right panels: blood and bone marrow samples from a control patient, 5 years status post an allogeneic bone marrow transplant with normal levels of blood lymphocytes and no graft-versus-host disease. Flow plots show antibodies used for staining leukocytes on the x and y axes; percentages listed in the right upper quadrant of each plot show percentage of leukocytes that were CD19+ B-cells (top two rows) or CD3+ T-cells (bottom row)
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case_images: PMC5863442_01_40364_2018_127_Fig3_HTML.jpg
case_images: Fig3
case_images: T-cells (Table 3 and Fig. 3).