Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The murine fetal thymus obtained early in gestation was found to develop normally in a syngeneic host. In contrast to the adult thymus grafts, the fetal thymus did not undergo the early and marked necrosis following transplantation into syngeneic hosts. Indeed, the fetal thymus was as effective as the adult thymus in achieving immunologic reconstitution of neonatally thymectomized syngeneic mice, and superior to adult thymus, when transplanted into allogeneic hosts. Furthermore, the fetal thymus, unlike the adult thymus, did not induce graft-vs-host disease (GVH) in genetically susceptible neonatally thymectomized mice. These observations seem relevant to thymus transplantation in children with a congenital absence of the thymus. Transplantation of fetal thymus in a child with DiGeorge syndrome corrected the T-cell immunodeficiency, and led to a reduction toward normal of the B-cell population.
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PMID:Fetal thymus transplantation: experimental and clinical observations. 23 78

Thymic function was evaluated by quantitation of circulating thymic factor in patients with several forms of severe infantile immunodeficiency diseases. Direct quantitation of thymic factor in serum of patients with severe combined immunodeficiency revealed heterogeneity of this syndrome by this parameter, as was also shown by study of susceptibility of the marrow cells to differentiation in vitro. Thymic factor was not detectable in one patient with severe combined immunodeficiency, but was present in normal or near-normal concentrations in three others. Circulating levels of this hormonal activity were also not detectable in a patient with DiGeorge athymic syndrome. Following marrow or fetal liver transplantation, which corrected the severe combined immunodeficiency thymic factor levels either increased slightly or did not change appreciably. Fetal thymic transplantation, which together with fetal liver transplantation corrected the immunodeficiency in one patient with severe combined immunodeficiency, was associated with increase of thymic factor to normal levels. Fetal thymus transplantation alone, which was employed to correct the immunodeficiency of DiGeorge athymic syndrome, caused an increase in thymic factor activity to normal or near normal levels in this patient.
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PMID:Thymic activity in severe combined immunodeficiency diseases. 32 51

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.
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PMID:Successful restoration of immunity in the DiGeorge syndrome with fetal thymic epithelial transplant. 68 95

A newborn with multiple malformations, recurrent infections and hypocalcemic tetany is presented. The malformations included: Facial asymmetry, micrognathia, epicantus, low set nose, peculiar ears, club-feet and heart disease. The immunologic work-up disclosed a cellular immunodeficiency, but normal humoral immunity, and a diagnosis of "incomplete DiGeorge syndrome" was made. No thymus, nor parathyroid glands were found at autopsy. The disagreement between the analytical data and the pathological findings of "complete DiGeorge syndrome" are discussed. The existence of vestigial ectopic thymus not found in the dissected organs is considered the most likely hypothesis. Finally some considerations are made about a possible role of the rubeola virus on its etiology and the actual therapeutic possibilities.
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PMID:[Incomplete Digeorge syndrome (author's transl)]. 98 6

The quantitative studies of B lymphocytes in peripheral blood have been performed in various forms of primary and secondary immunodeficiency disease in man. X-linked agammaglobulinemia was found to comprise two sub-types, one lacking B-cell population, the other showing low numbers of B lymphocytes. The absence of B cells in severe combined immunodeficiency was corrected by marrow transplants in 3 children. Cases of DiGeorge syndrome and lepromatous leprosy showed an absolute increase in numbers of B lymphocytes in peripheral blood, probably a compensatory mechanism in the market deficit of T-cell population and function. The reconstitution of DiGeorge syndrome by fetal thymus transplant reversed the abnormally high percentage of B lymphocytes.
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PMID:B lymphocytes in primary and secondary deficiencies of humoral immunity. 108 58

In a review of thymus transplants performed in a variety of immunodeficiency syndromes, results in the DiGeorge syndrome seen uniformly successful. Rapid restoration of lymphocyte responsibility in vitro and achievement of normal peripheral blood lymphocyte counts are characteristic. In nearly all other types of isolated thymic deficiency or combined immunodeficiency there has been only transient or meager restitution and more often than not complete failure. A few exceptions were noted in a combined immunodeficiency state and in two cases of isolated T-cell deficiency. The use of transfer factor may have played an important adjunctive role. Future attempts must depend upon more precise characterization of the defects, utilizing attempts to define subpopulations of T and B cells; consideration of HL-A restrictions; methods of implantation and use of adjunctive measures (eg thymosin) or other cell populations (such as liver or spleen).
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PMID:Thymus transplants: a look to the future. 108 59

Some rotavirus strains, including vaccine candidates, have been demonstrated to cause hepatitis in immunodeficient and malnourished mice and to grow in human liver cells. To determine whether rotavirus spreads outside the intestine in naturally infected children, we examined tissues from four immunodeficient children affected with severe combined immunodeficiency disease, acquired immunodeficiency disease syndrome, or DiGeorge syndrome. Chronic rotavirus-related diarrhea, which persisted until death, had also developed in each child. Using indirect immunoperoxidase techniques, we identified rotavirus antigen in the liver and kidney with a hyperimmune guinea pig antiserum prepared to double-shelled rotavirus particles. Similar immunostaining with an antiserum to a rotavirus nonstructural protein (NS26) provided evidence of active virus replication. The observed reactivity was eliminated specifically when serial sections were immunostained with the same antiserum that had been absorbed with either double-shelled rotavirus particles or NS26. Immunostaining was not observed in the liver of children with other diseases (alpha 1-antitrypsin deficiency, inspissated bile syndrome, and acute rejection of a transplanted liver). These findings demonstrate that rotavirus infections in children can extend beyond the intestinal tract. Further studies are warranted to determine whether extraintestinal rotavirus replication occurs in children without severe immunodeficiency, such as malnourished children.
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PMID:Extraintestinal rotavirus infections in children with immunodeficiency. 131 19

A family including three children with DiGeorge syndrome is described. One child died in the neonatal period from cardiac anomalies accompanying complete DiGeorge syndrome. The two surviving siblings shared a common set of pharyngeal pouch anomalies and immunodeficiency consistent with partial DiGeorge syndrome, and other morphologic anomalies characteristic of the velocardiofacial syndrome with which familial DiGeorge syndrome is associated (reviewed in reference 1). Both had normal karyotypes. Both presented with recurrent otitis media and sinopulmonary infections, CD4+ T cell lymphopenia, and defective DCH skin test responses to recall T cell antigens. Both had low serum IgM levels and IgG4 levels at the lower limits of normal. Immunization with bacterial polysaccharides resulted in impaired IgG antibody responses to the same set of antigens (H. influenzae polyribophosphate and S. pneumoniae capsular serotypes 9N and 14), while responses to protein antigens were intact. Both siblings were treated successfully with intravenous gamma globulin. The pattern of selective antibody deficiency in these patients with familial DiGeorge syndrome suggests a heritable lesion in certain regulatory antipolysaccharide CD4+ T cell subpopulations.
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PMID:Selective polysaccharide antibody deficiency in familial DiGeorge syndrome. 152 80

DiGeorge syndrome in humans is characterized by immunodeficiency, heart defects, mental retardation and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases. To generate DNA markers from this region, we have microdissected and microcloned band q11 of human Chromosome (Chr) 22. Nineteen thousand clones were obtained from material dissected from 20 chromosome fragments. Seventeen of 61 clones analyzed (28%) were repetitive, 27 (44%) gave no signal, and 17 (28%) detected single copy sequences of which ten mapped to Chr 22. Two of these were found to be deleted in patients with DiGeorge syndrome and either monosomy for 22q11-pter or visible interstitial deletions of 22q11. These two markers are also hemizygous in patients with no visible chromosomal abnormality, demonstrating that submicroscopic deletions are common in DiGeorge syndrome patients.
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PMID:Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11. 161 13

We report a rare case of interrupted aortic arch and a right aortic arch associated with DiGeorge syndrome, in neonate. Through a median sternotomy bypass was established placing an arterial perfusion cannula both in the ascending aorta, and in the main pulmonary artery. The right and left pulmonary arteries were temporarily occluded, while this pulmonary cannula perfused the lower part of the body. The arch reconstruction was performed during profound hypothermic total circulatory arrest. The right descending aorta had an adequate length and direct anastomosis was carried out without any tension. The VSD was repaired through a right atrial approach. The patient had hypocalcemia and thymic abnormalities which was consistent with the DiGeorge syndrome. He was treated with calcium gluconate and alfacalcidol, but no serious infection due to immunodeficiency was seen after operation. Post operative catheterization revealed no pressure gradient at the site anastomosis of the aortic arch and satisfactory results.
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PMID:[Successful complete repair of interrupted aortic arch and associated with DiGeorge syndrome in neonate]. 177 90


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