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Slatter, Mary A., MD; Engelhardt, Karin R., PhD; Burroughs, Lauri M., MD; Arkwright, Peter D., DPhil; Nademi, Zohreh, PhD; Skoda-Smith, Suzanne, MD; Hagin, David, PhD; Kennedy, Alan, PhD; Barge, Dawn, PhD; Flood, Terence, MD; Abinun, Mario, PhD; Wynn, Robert F., MD; Gennery, Andrew R., MD; Cant, Andrew J., MD; Sansom, David, PhD; Hambleton, Sophie, DPhil; Torgerson, Troy R., MD
Journal of allergy and clinical immunology, 08/2016, Volume: 138, Issue: 2Journal Article
Patient 4 (sibling to patient 3) was well until he presented with inflammatory colitis and Hodgkin lymphoma (inguinal and para-aortic region) at age 16 years. Because of his sibling's history, CTLA4 haploinsufficiency was confirmed by both genetic and protein level testing, the only patient in this cohort to have an identified mutation before HSCT. In summary, 4 of 8 patients experienced GvHD despite having well-matched donors and receiving alemtuzumab in 3 out of 4 cases.\n9 (5.4-16.8)IgA 0.27 (0.74-2.61)IgM 0.84 (0.40-1.95)Preimmunoglobulin therapyPre-RTX 23 y Interstitial lung disease ("nodular lymphoid hyperplasia") Transverse myelitis Recurrent white matter and brainstem lesions with oligoclonal bands and elevated IgG index Arthritis Father:ITPSister:Patient no. 7 Table I Patients' characteristics ABVD, Adriamcyin (Doxorubicin), bleomycin, vinblastine, dacarbazine; naive CD4, CD3+CD4+CD27+CD45RA+; naive CD8, CD3+CD4-CD27+CD45RA+; Euronet PHL-C1, Euronet pediatric Hodgkin lymphoma-C1; F, female; IDDM, insulin-dependent diabetes mellitus; ITP, idiopathic thrombocytopenic purpura; M, male; NK, natural killer; PN, parenteral nutrition; RTX, rituximab.
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