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At least 577 records · Page 32Linked to original sources
PubMed1988

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

High-resolution cytogenetics analysis of peripheral blood lymphocytes was done prospectively on 27 of 28 patients with features of DiGeorge anomaly. Twenty-two patients (81%) had normal chromosome studies with no detectable deletion in chromosome 22. Five patients (18%) had demonstrable chromosome abnormalities. Three patients had monosomy 22q11, one due to a 4q;22q translocation, one due to a 20q;22q translocation, and one due to an interstitial deletion of 22q11. One patient had monosomy 10p13, and one patient had monosomy 18q21.33, although the latter had subsequent resolution of T-cell defects. These findings are consistent with the heterogeneity of DiGeorge anomaly but confirm the association with monosomy 22q11 in some cases. However, monosomy 10p13 may also lead to this phenotype. Because of these associated chromosome findings, cytogenetic analyses should be done on patients with suspected DiGeorge anomaly. This is particularly important since many of the abnormalities involving chromosome 22 are translocations that can be familial with a higher recurrence risk. Since only one subtle, interstitial deletion of chromosome 22 was observed, it is not clear whether high-resolution cytogenetic analysis is cost beneficial for all such patients.

Child↗
PubMed1987

Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.

The case of a neonate with clinical symptoms of DiGeorge syndrome is reported. During pregnancy the measurements by ultrasonography revealed already a significant growth retardation of the fetus, for the first time obvious in the 20th week. The child died immediately after birth. A de novo translocation X/22 was observed with the translocation chromosome being late replicating in all mitoses analysed. The own observation is discussed regarding other cases with DiGeorge syndrome and taking the differential diagnoses into account. count.

Adult↗
PubMed1987

The thymus gland in secondary immunodeficiency.

The microenvironment within the thymus gland and various thymic hormones facilitates the maturation of prothymocytes to functional T lymphocytes. Abnormal thymic morphology is a hallmark feature of several primary and secondary immunodeficiencies. Thymus glands from patients with the acquired immunodeficiency syndrome or graft-vs-host disease and from patients receiving cyclosporine A therapy are depleted of thymocytes, have a striking reduction in thymic epithelial cell mass, and are virtually devoid of Hassall's corpuscles. In malnourished individuals, similar thymic atrophy is present, although the Hassall's corpuscles are present and cystically dilated. Absence of differentiation antigens or anomalous expression of major histocompatibility antigens occurs on thymic epithelial cells in these conditions, and resembles immunologic abnormalities of the thymus in severe combined immunodeficiency. In acquired immunodeficiency syndrome, graft-vs-host disease, and cyclosporine therapy, there is an expansion of cytotoxic/suppressor (CD8) lymphocytes. Experimental evidence suggests that in many situations, such cells may cause damage to the thymic epithelium. The damage to the thymic epithelium may alter the thymic microenvironment and contribute to the immune dysfunction observed in these patients. In addition, a damaged microenvironment may hinder therapeutic efforts to reconstitute immunity.

Acquired Immunodeficiency Syndrome↗
PubMed1987

Focal pontine leukoencephalopathy in immunosuppressed patients.

In three patients who died of immunodeficiency syndromes, including two patients with acquired immunodeficiency syndrome (AIDS), foci of necrotizing leukoencephalopathy were found in the basis pontis. The lesions were identical in location and morphology to those previously described in patients who received chemotherapy and central nervous system radiotherapy for various malignancies, and (except for their restricted anatomic location) resembled the disseminated necrotizing leukoencephalopathy that complicates central nervous system leukemia and lymphoma. The lesions are to be distinguished from central pontine myelinolysis, are confined to pontocerebellar tracts, and are not specific for the immunodeficient state, but may reflect preterminal metabolic derangements, since they seem unrelated in this clinical setting to malignancy and/or its treatment. Alternatively, they may be a consequence of the immunosuppressed state. The presence of this morphologic abnormality in two AIDS patients is especially intriguing, in view of the frequency with which white matter lesions are seen in the AIDS population.

Acquired Immunodeficiency Syndrome↗