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At least 415 records · Page 23Linked to original sources
PubMed1998

[Diagnostic approach to hypereosinophilia].

Blood hypereosinophilia is a common finding in medical practice requiring further investigation. There are a wide range of potential causes including atopic disorder, drug allergy, parasitic infection, certain forms of immune deficiency, inflammatory process, hemopathy, and malignant disease. Diagnosis of persistent hypereosinophilia not associated with parasitic infection is one of the major diagnostic dilemmas in medicine. If through investigation fails to achieve diagnosis, idiopathic hypereosinophilia may be suspected including the possibility of essential hypereosinophilic syndrome or Chusid syndrome. The primary determination for diagnosis of hypereosinophilia involves the presence or absence of parasitic infection. If parasitic infection is ruled out, it is often difficult to distinguish benign, self-limiting forms from severe forms requiring careful surveillance and subsequent treatment. From a pathophysiological standpoint, one may ask if some eosinophilic conditions are not due to deregulation of immunologic mechanisms that normally protect the organism against parasitic infection.

Diagnosis, Differential↗
PubMed1994

New perspectives on use of thymic factors in immune deficiency.

Current knowledge on the role of thymic factors in the immune response is inadequate and remains relatively primitive when compared with present technical possibilities for assessing lymphocyte subsets or cytokine interaction. New studies support the potential importance of thymic factors as regulators of immune interactions. Indirect evidence supports the concept that thymic factors may work at the level of IL-2. The functional identity of cells responsive to thymic factors and the relation of observed effects to cytokine network interactions need to be established. The use of thymic factors in the future will depend on the development of criteria to identify appropriate settings in which to use such factors and the implementation of appropriate measures of immune functional response.

CD4-CD8 Ratio↗
PubMed2006

Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease.

Major histocompatibility complex class II (MHC-II) molecules are of central importance for adaptive immunity. Defective MHC-II expression causes a severe immunodeficiency disease called bare lymphocyte syndrome (BLS). Studies of the molecular defects underlying BLS have been pivotal for characterization of the regulatory system controlling the transcription of MHC-II genes. The precisely controlled pattern of MHC-II gene expression is achieved by a very peculiar and highly specialized molecular machinery that involves the interplay between ubiquitous DNA-binding transcription factors and a highly unusual, tightly regulated, non-DNA-binding coactivator called the MHC class II transactivator (CIITA). CIITA single handedly coordinates practically all aspects of MHC-II gene regulation and has therefore been dubbed the master controller of MHC-II expression. Several of the unusual features of the MHC-II regulatory system may be a consequence of the fact that CIITA originated from an ancient family of cytoplasmic proteins involved in inflammation and innate immunity. The function of CIITA in transcriptional regulation of MHC-II genes could thus be a recent acquisition by an ancestral protein having a role in an unrelated system.

Animals↗
PubMed1981

Down's syndrome: problems of immunodeficiency.

The high susceptibility to infections, malignancies, and autoimmune disorders of subjects with Down's syndrome (DS) is associated with laboratory and pathological evidence of immunodeficiency. The percentage of circulating T-lymphocytes is indeed low from birth, and lymphocyte proliferative response to mitogens, normal during the 1st decade of life, declines rapidly thereafter. There is indirect evidence that T-lymphocyte maturation is impaired in DS; furthermore, the thymus is morphologically deranged and there is recent direct evidence that serum levels of thymic hormones are low. It is suggested that the immunodeficiency of DS results from a defect limited primarily to the epithelial cells of the thymus which fail to synthesize or secrete one or more hormones necessary for the differentiation of T-lymphocytes.

Adolescent↗
PubMed1989

DiGeorge syndrome with hypogammaglobulinaemia: a patient with excess suppressor T cell activity treated with fetal thymus transplantation.

A male infant with DiGeorge syndrome had hypogammaglobulinaemia with a normal number of B cells. CD3(+) T cells were reduced and the CD4(+)/CD8(+) ratio was reversed. Proliferative responses of T cells to mitogens and to allogeneic cells were low. The pokeweed mitogen (PWM)-induced B cell differentiation assay revealed a higher than normal suppressor T cell activity. This suggests that some T cells had differentiated into functionally mature cells resulting in an imbalance of regulatory T cell functions and that excess suppressor activity might play a role in hypogammaglobulinaemia. Fetal thymus transplantation improved both cellular and humoral immunity. The patient's susceptibility to viral and bacterial infections, proliferative response of T cells and serum Ig concentration returned to normal. The excess suppressor activity seen before transplantation disappeared. Hypocalcaemia did not improve. These results show that fetal thymus transplantation was effective not only in reconstituting cellular immunity but also in normalizing the imbalance of regulatory T cell functions in this patient with DiGeorge syndrome.

Agammaglobulinemia↗
PubMed1981

An unusual case of metaphyseal chondrodysplasia with an abnormal perilacunar matrix associated with agranulocytosis and hypoplasia of the thymus.

We report herein an unusual skeletal dysplasia in a 6-month-old boy characterized by metaphyseal dysplasia associated with agranulocytosis and hypoplasia of the thymus. A radiological survey revealed generalized metaphyseal abnormalities showing widening and increased density. Pathological changes in the chondro-osseous tissues were unusual and distinctive. There was widespread evidence of abnormal chondrocytes with an abnormal perilacunar matrix containing a PAS-positive, diastase resistant substance. Chondrocyte maturation and regular columnar arrangement were absent in most growth plates with only scattered ball-like nests of chrondrocytes showing incomplete maturation. This case is a newly described form of osteochondrodysplasia.

Agranulocytosis↗
PubMed2001

DiGeorge syndrome/chromosome 22q11.2 deletion syndrome.

DiGeorge syndrome is characterized by conotruncal cardiac defects, hypocalcemia, and a hypoplastic thymus. Many, but not all, patients have a heterozygous deletion of chromosome 22q11.2. In its most severe form, it represents a devastating syndrome with high mortality. Patients with severe immunodeficiency are candidates for a thymic transplant or a fully matched bone marrow transplant. Fortunately, the majority of patients with either DiGeorge syndrome or chromosome 22q11.2 deletion syndrome have a mild to moderate immunodeficiency. These patients may develop recurrent infections or autoimmune disease.

Chromosome Deletion↗
PubMed1989

Absence of the leaflets of the aortic valve in DiGeorge syndrome.

A newborn infant is described with complete absence of the leaflets of the aortic valve, interruption of the aortic arch and DiGeorge syndrome. This association has not previously been reported, nor has absence of the leaflets of the aortic valve without other features of left ventricular dysplasia. We discuss the possible influence of severe intra-uterine aortic regurgitation on development of the aortic arch.

Aortic Valve↗
PubMed1990

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.

DiGeorge syndrome is a human developmental field defect with the pathological features of an abnormality of embryogenesis at 4 to 6 weeks of gestation. Cytogenetic analyses of patients have revealed a number of instances of monosomy 22q11-pter in this condition. We have analyzed 52 DNA markers that map to 22q11-pter and have found 27 that are deleted in DiGeorge syndrome patients with known monosomy for part of this region and that are duplicated in patients with the der22 syndrome. The set of clones mapping to the DiGeorge region was further assigned to a proximal or a distal location within the deletion.

Base Sequence↗
PubMed2003

Immune suppression and considerations for dental care.

Immunocompromised individuals present a challenge to oral health care providers. As the spectrum of patients with dysfunctional immune responses continues to broaden, practitioners should be able to identify these patients, understand the potential for complications, and manage their dental care safely and effectively. This article reviews various immune deficiencies, addresses complications that may result from an individual's immune status, and discusses dental considerations for these patients.

Dental Care for Chronically Ill↗
PubMed1980

Thymosin therapy in the DiGeorge syndrome.

Reconstruction of the T-cell immune defect in patients with the DiGeorge syndrome has been accomplished in the past by fetal thymus transplantation. Because of the risk of fatal graft-versus-host reaction with fetal thymus transplantation in patients with abnormal T-cell immunity, we have examined the effects of a thymus tissue extract, thymosin fraction 5, on the in vitro and in vivo immune function in children with the DiGeorge syndrome. T-cell numbers were increased with thymosin F5 in vitro in three of five patients. T-cell number and function was improved in three of four patients treated with thymosin F5 in vivo. Spontaneous improvement in the immune function of these patients cannot be excluded. These results suggest, however, that further trials with thymosin F5 therapy may be indicated in patients with the DiGeorge syndrome.

DiGeorge Syndrome↗