Hematopoietic stem cell transplantation for CTLA4 deficiency

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...

Full description

Saved in:
Bibliographic Details
Published in:Journal of allergy and clinical immunology 2016-08, Vol.138 (2), p.615-619.e1
Main Authors: 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
Format: Article
Language:English
Subjects:
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2016.01.045