PMC5863442_01
Pedigree of the affected family. Arrow indicates the patient of discussion
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Fig1
Additionally, her mother had 2 sisters ages 42 and 45, both of whom had anemia, chronic low blood counts, and autoimmune disease (Fig. 1).
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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Fig2
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.
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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Fig3
T-cells (Table 3 and Fig. 3).