PMC4769101_01
Family pedigree and immune function testing for all affected family members prior to immune replacement. Quantitative Immunoglobulin levels are given with the given lab's normal values for age at time of evaluation, P1(31yo), P2 (13yo), P3 (5yo), P4 (3yo) P5 (3yo). P1's flow cytometry, obtained at age 34, is shown post transplantation as she was evaluated post liver transplantation; P2 however was evaluated with flow cytometry pre liver transplant and at age 27. Lymphocyte enumeration of the children was obtained at 10 years of age for P3 and 8 years for P4 and P5. A summary of all infections and systemic symptoms for each of the family members is also provided. Culture positive results for sinopulmonary infections (S. aureus, S. pneumonia, and H. influenzae) were documented for P3, P4 and P5 on different occasions, diagnosis based on clinical symptoms documented for P1 and P2. * indicates data not available. Father of P1 and P2 as well as the 2 unaffected siblings are mutation negative; mother of P1 and P2 was not tested as she is deceased and there is no genetic tissue available for evaluation, as indicated by "E?" in the pedigree. Abbreviations: Varicella zoster virus (VZV), Herpes Simplex virus (HSV). Primary Sclerosing Cholangitis (PSC), Gastroesophageal Reflux (GERD), Ulcerative Colitis (UC)
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F1
All affected family members have recurrent sinopulmonary infections and various shared and unique clinical features as outlined in Figure 1.
a) 2X, b) 10X. Liver biopsy of P1 at time of PSC diagnosis showing liver cirrhosis, periductal fibrosis, ductopenia with neocholangiogensis consistent with PSC. Images show obliterated bile duct with inflammation at the hilum of the liver. The only residual epithelium is from peribiliary glands. There was no evidence of cryptosporidium infection on biopsy and multiple stool tests. Abbreviations: Primary Sclerosing Cholangitis (PSC)
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F2
Her liver biopsy is seen in Figure 2 showing liver cirrhosis, periductal fibrosis, and ductopenia with neocholangiogensis consistent with PSC.