Complete DiGeorge syndrome: Persistence of profound immunodeficiency

Markert, M. Louise; Hummell, Donna S.; Rosenblatt, Howard M.; Schiff, Sherrie E.; Harville, Terry; Williams, Larry W.; Schiff, Richard I.; Buckley, Rebecca H.

doi:10.1016/s0022-3476(98)70478-0

Cited by 108 publications

(108 citation statements)

References 12 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%

“…The reported B-and NK-cells numbers of other patients were normal. 14,23,[26][27][28][34][35][36] Immunoglobulin levels were reported in 33 of 59 patients and in 20 of 36 patients with a proven variant in CHD7. Hypogammaglobulinaemia was reported in 20 of 33 (61%) patients and measured along with T-cell lymphopenia in 14 of 18 (78%) patients.…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 97%

“…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%

“…Hypogammaglobulinaemia was reported in 20 of 33 (61%) patients and measured along with T-cell lymphopenia in 14 of 18 (78%) patients. 14,17,[22][23][24][25][26][27][28][29]35,36 Thirteen of 33 (39%) patients with known immunoglobulin levels had IgG deficiency and 2 of these patients had received immunoglobulin replacement therapy. 14,[16][17][18][22][23][24][25][26][27][28][29]38 Of these 13 patients with IgG deficiency, 6 had recurrent or chronic infections and 1 had absent specific antibody responses.…”

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: 97%

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

See 2 more Smart Citations

CHARGE syndrome: a review of the immunological aspects

et al. 2015

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“…Abnormalities seen at birth involve to varying degrees the heart, parathyroid glands, and thymus [2][3][4][5][6]. Fewer than 1 in 100 infants born with DiGeorge anomaly demonstrates athymia ("complete DiGeorge anomaly"), leading to a congenital combined immunodeficiency that is usually fatal due to infection by 2 years of age.…”

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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General Recommendations on Immunization

1989

JAMA

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Complete DiGeorge syndrome: Persistence of profound immunodeficiency

Cited by 108 publications

References 12 publications

CHARGE syndrome: a review of the immunological aspects

CHARGE syndrome: a review of the immunological aspects

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

General Recommendations on Immunization

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