Transplantation of Thymus Tissue in Complete DiGeorge Syndrome

Markert, M. Louise; Boeck, Andreas; Hale, Laura P.; Kloster, Amy; McLaughlin, Tanya M.; Batchvarova, Milena; Douek, Daniel C.; Koup, Richard A.; Kostyu, Donna D.; Ward, Frances E.; Rice, Henry E.; Mahaffey, Samuel M.; Schiff, Sherrie E.; Buckley, Rebecca H.; Haynes, Barton F.

doi:10.1056/nejm199910143411603

Cited by 236 publications

(148 citation statements)

References 45 publications

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“…For 23 of 26 (88%) patients, T-cell lymphopenia was concomitant with T-cell dysfunction. 14,17,18,20,[22][23][24][25][26][27][28][29][30][31]33,[35][36][37] In our collected cohort, B-and/or NK-cell numbers were reported in only 29 of 59 patients, and of these 29 patients, 1 had low B-cell numbers, 1 had high B-cell numbers, 1 had low NK-cells numbers and 3 had high NK-cell numbers. The reported B-and NK-cells numbers of other patients were normal.…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 78%

“…Of the 35 patients, 1 patient had T-cell lymphopenia and a transient B-cell lymphopenia, which normalized with ageing. [26][27][28] Thymic aplasia was reported in 27 of 59 patients and in 16 of 36 patients with a proven variant in CHD7. T-cell lymphopenia in our collected cohort was associated with thymic aplasia or hypoplasia in 21 of 22 (95%) patients.…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 98%

“…T-cell lymphopenia in our collected cohort was associated with thymic aplasia or hypoplasia in 21 of 22 (95%) patients. [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36] T-cell function by response on mitogens was available for 28 of 59 patients and of these 28 patients 24 (86%) had a low or absent response on mitogen. For 23 of 26 (88%) patients, T-cell lymphopenia was concomitant with T-cell dysfunction.…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

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CHARGE syndrome: a review of the immunological aspects

et al. 2015

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CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been described, but are generally given little attention in studies on CHARGE syndrome. However, structured information on immunological abnormalities in CHARGE patients is necessary to develop optimal guidelines for diagnosis, treatment and follow-up in these patients. Here, we provide an overview of the current literature on immunological abnormalities in CHARGE syndrome. We also explore immunological abnormalities in comparable multiple congenital anomaly syndromes to identify common immunological phenotypes and genetic pathways that might regulate the immune system. Finally, we aim to identify gaps in our knowledge on the immunological aspects in CHARGE syndrome that need further study.

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Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 78%

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 98%

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

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CHARGE syndrome: a review of the immunological aspects

et al. 2015

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“…Cells from donor thymus tissues were collected under aseptic conditions during the thymus culturing process, layered over Lymphoprep (Axis-Shield, Oslo, Norway) to remove dead thymocytes, red blood cells and debris, and cryopreserved in freezing media [7]. Samples were thawed at 37°C, washed, and resuspended in culture medium consisting of RPMI 1640 with HEPES, 10% human AB serum (Gemini Bio-Products, W. Sacramento, CA), and 1% penicillin/streptomycin.…”

Section: Donor Thymic Cells (Dtcs)mentioning

confidence: 99%

“…Thymus transplantation using postnatal cultured allogeneic HLA-nonmatched thymus tissue provides immunoreconstitution [7,8]. These thymus grafts provide an environment for recipient thymocyte precursors to enter, undergo positive and negative selection, and emerge in the peripheral circulation as functional naïve T cells.…”

Section: Introductionmentioning

confidence: 99%

Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly

Chinn

Devlin

et al. 2008

Clinical Immunology

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Thymus transplantation in subjects with complete DiGeorge anomaly using postnatal allogeneic HLA-nonmatched cultured thymus tissue provides immunoreconstitution. Tolerance of the newly developed T cells toward the donor thymus has not previously been studied. Mixed lymphocyte cultures were used to test 12 thymus transplant recipients for long-term tolerance toward their thymus allografts. Two subjects tested for responses toward thymus donor peripheral blood mononuclear cells showed significantly less reactivity toward the donors compared to responses against third-party allogeneic cells. Peripheral blood mononuclear cells from 10 other subjects were less responsive toward cryopreserved donor thymic cells than toward allogeneic cells (P = 0.00007). Adult control peripheral blood mononuclear cells proliferated strongly in response to the donor thymic cells. Both the subjects and controls showed similar proliferative responses against allogeneic cells and phytohemagglutinin. This study provides in vitro evidence for long-term tolerance of complete DiGeorge anomaly thymus transplantation recipients toward their HLA-nonmatched thymus grafts.

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