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Results for “Immunologic Deficiency Syndromes”

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At least 667 records · Page 37Linked to original sources
PubMed1983

Oral findings in DiGeorge syndrome.

An 8-year-old female with DiGeorge syndrome was referred for dental treatment. Previous medical examination had disclosed heart and aortic arch malformations, hypoparathyroidism and an impaired cellular immune response. At dental examination, hypertelorism, a short philtrum, low-set malformed ears, a cleft palate and severe enamel hypoplasia were noted. The chronological distribution of enamel defects corresponded to the patients' age at known episodes of profound hypocalcemia occurring during treatment with vitamin D. Branchial dysembryogenesis should be considered in any case with dental changes related to hypoparathyroidism.

Child↗
PubMed1980

Phytohaemagglutinin-induced leukocyte migration inhibition and phytohaemagglutinin skin test for screening the cell-mediated immune response in children.

Phytohaemagglutinin-induced leukocyte migration inhibition was studied in 72 children and compared with phytohaemagglutinin skin testing. The methods were used for screening the cell-mediated immune response. The in vitro method, which requires only 10-15% of the number of migrating cells as compared with other migration techniques, proved to be more sensitive, but gave some false-positive results when compared with other immunological parameters. Nevertheless, application of the microdroplet leukocyte migration is advantageous, used either simultaneously with the skin test, or as a single screening method in prematures, mature newborns and young infants, where application and/or evaluation of the skin tests is difficult.

Adolescent↗
PubMed1984

Immunologic studies of the acquired immune deficiency syndrome: relationship of immunodeficiency to extent of disease.

Immunologic and conventional laboratory studies were done in 135 previously untreated subjects including 28 (20.7%) symptom-free homosexuals and 74 (54.8%) with ARC and 33 (24.5%) with AIDS. More than half of all patients had abnormal percentages of lymphocytes, percentages of T3+ cells, percentage and absolute number of T4+ cells, percentage of T8+ cells, T4/T8 ratio, monocyte adherence, and serum thymosin alpha 1. Most immune variables worsened with progressive disease. Low lymphocyte 5'nucleotidase increased suppressor cell activity, and impaired IL-2 and alpha interferon production and response suggest diminished mature and increased immature peripheral blood and tissue T cells. These findings suggest approaches to staging, prognostication, and treatment for AIDS.

Acquired Immunodeficiency Syndrome↗
PubMed1978

Successful restoration of immunity in the DiGeorge syndrome with fetal thymic epithelial transplant.

A 13-month-old girl presented with right upper lobe pneumonia and hypocalcaemic seizures: investigations showed hypoparathyroidism and impaired cell-mediated immune responses. Other features of the DiGeorge syndrome included hypertelorism, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery. Successful restoration of the immunodeficiency was achieved by transplantation of fetal thymic epithelium.

DiGeorge Syndrome↗
PubMed2005

Heritable defects of the human TLR signalling pathways.

Recently, three human primary immunodeficiencies associated with impaired TLR signalling were described. Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), either X-linked recessive or autosomal dominant, is caused by hypomorphic mutations in NEMO or hypermorphic mutation in IKBA, respectively, both involved in nuclear factor-kappaB (NF-kappaB) activation. These patients present with abnormal development of ectoderm-derived structures and suffer from a broad spectrum of infectious diseases. In vitro studies of the patients' cells showed an impaired, but not abolished, NF-kappaB activation in response to a large set of stimuli, including TLR agonists. More recently, patients with autosomal recessive amorphic mutations in IRAK4 have been reported, presenting no developmental defect and a more restricted spectrum of infectious diseases, mostly caused by pyogenic encapsulated bacteria, principally, but not exclusively Gram-positive. In vitro studies carried out with these patients' cells showed a specific impairment of the Toll-interleukin-1 receptor (TIR)-interleukin-1 receptor associated kinase (IRAK) signalling pathway. NF-kappaB- and mitogen activated protein kinase (MAPK) pathways are impaired in response to all TIR agonists tested. These data, therefore, suggest that TLRs play a critical role in host defence against pyogenic bacteria, but may be dispensable or redundant for immunity to most other infectious agents in humans.

Ectodermal Dysplasia↗
PubMed1990

Neuroblastoma and DiGeorge anomaly.

DiGeorge anomaly is a rare disorder felt to be a complex neurocristopathy. We report the unusual association of congenital neuroblastoma arising in an infant with the DiGeorge anomaly.

DiGeorge Syndrome↗
PubMed1991

[Tumors in immunodeficiency syndromes].

It is the purpose of this review to analyse prevalence and pathogenesis of tumours occurring in the diverse conditions of primary and secondary immunodeficiencies. In general, most states of immunodeficiences are connected with a highly increased tumour risk. However, there is circumstantial evidence that immunodeficiency-related malignancies do not primarily result from an impaired immunosurveillance. With special regard to ataxia-telangiectasia it has been found that congenital chromosomal instability deregulates the maturation of immunocompetent lymphoid cells by interfering with their natural DNA rearrangements and eventually leads to false recombinatory events with oncogenetic consequences in a parallel way. Malignancies in primary common variable or in secondary (e.g. AIDS) immunodeficiency may result from an impaired immunity to oncogenic viruses or from chronic immune damage due to secondary autoimmune disorders.

Acquired Immunodeficiency Syndrome↗
PubMed1991

[Lung involvement in patients with secondary immunodeficiency states].

The period of last years was marked by an increasing number of patients with secondary immunodeficiencies who have also got a diagnosis of various lung pathology (bacterial pneumonia is more frequent, however protozoan, fungal, viral, tuberculous and malignant affections of lungs also are not unusual). Diagnostics and treatment of such affections require a considerable improvement. These were the goals of clinic data analysis and pathologicoanatomic studies. The article gives the systematization of lung affections and stresses the peculiarities in diagnostics and treatment of patients with lung affections on the background of secondary immunodeficiencies.

Acquired Immunodeficiency Syndrome↗
PubMed1990

[Immunologic disorders in children with developmental thoracic defects].

As the result of immunological examination of 21 children with developmental defects of the chest and analysis of the course of the postoperative period in 136 children, among which 36 had hereditary syndromes of systemic connective-tissue dyshistogenesis, it was found that suppurative complications of thoracoplasty, which are encountered in 15% of children with isolated developmental chest defects and in 33.3% of those with the above mentioned syndromes, were caused to a great measure by disorders of the immune status. The most serious immunological deviations were encountered in the Marfan syndrome due to impaired phagocytic activity of neutrophils and monocytes, decreased number of T, T active, and B lymphocytes, and diminished function of T helpers. In unclassified complexes of developmental defects with Marfaneic ++ phenotypes, the immunological disorders were similar, but less deep. In the Ehlers-Danlos syndrome, a decrease of the number of immunocompetent cells, function of T helpers, and neutrophils was mainly revealed. In isolated forms of funnel chest the function of monocytes and the number of immunoglobulins are mainly decreased.

Adolescent↗