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)

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

Two patients with Di George syndrome are presented. Diagnosis was done at ages 4 months and 16 days respectively. Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other). The first patient is now a 3.5 year old boy, his vascular ring was repaired and he has hypoparathyroidism but no clinical nor laboratory evidence of cellular immunodeficiency. The other patient had evidence of heart failure at her second week of life, she died at age sixteen days and, at necropsy, Fallot's tetralogy with pulmonary valve atresia, closed ductus arteriosus, histologically normal ectopic thymus and absent parathyroid glands were demonstrated. We postulate that these cases correspond to partial forms of Di George syndrome.
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PMID:[Di George syndrome]. 184 46

The authors report the case of a child who, at the age of 18 months showed signs of hypoparathyroidism together with gastrointestinal, then buccal, then ungual candidiasis. Acute adrenal failure occurred when he was 5 1/2 years' old. At the age of 10, the patient developed alopecia areata and interstitial keratitis. Immunological investigations yielded normal results, except that serum was weakly positive for anti-adrenal antibodies at 1/10th. The mucosal and ungual candidiasis infection was cured by ketoconazole, and the various endocrine abnormalities were corrected with the appropriate replacement therapies. This case prompted the authors to review the candidiasis/"polyglandular autoimmune disease" association. Whitaker's triad consists of candidiasis, hypoparathyroidism and chronic renal failure, 2 or these 3 elements being sufficient to make the diagnosis. Numerous other associations have been described; they are presented here in table form in descending order of frequency, with candidiasis/hypoparathyroidism coming on top of the list (70 p. 100). The fairly constant chronological order in which these different pathologies appear is one of the peculiarities of the syndrome: candidiasis often precedes hypoparathyroidism and adrenal insufficiency. Alopecia areata does not seem to be frequent, but its true incidence is difficult to quantify since lesions of the scalp and/or skin appendages are poorly documented in the literature. Alopecia and keratopathy seem to be of autoimmune origin. Mucocutaneous candidiasis too is specific, the mucosae and nails being constantly involved. This type of candidiasis does not exist in other forms of hypoparathyroidism. Chronic mucocutaneous candidiasis is found in many different diseases and is due to immunodeficiency against Candida spp.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Autoimmune polyendocrinopathy and chronic mucocutaneous candidiasis]. 266 Jul 6

This study describes clinical signs and symptoms in 16 patients with the DiGeorge syndrome (DGS). Diagnosed on the basis of typical facial stigmata, a broad spectrum of severity is seen with respect to congenital heart disease, hypoparathyroidism and immunologic parameters. A simple index of severity is introduced that clearly differentiates complete forms of the syndrome (cDGS) with poor prognosis from partial forms of the syndrome (pDGS). Of 13 pDGS patients, 12 are still living; 8 underwent corrective heart surgery without infectious complications. Moderate to severe mental retardation is seen in all pDGS patients. Due to the lack of thymus function, immunodeficiency is a result of cDGS, whereas immunoregulatory disturbances (hypergammaglobulinaemia, high titres of specific antibody production) prevail in pDGS patients.
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PMID:The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome. 304 96

A Hispanic infant girl with DiGeorge syndrome underwent successful bone marrow transplantation (BMT) at age 28 1/2 weeks. She had typical facies, a cardiac defect, hypoparathyroidism, severe T and B cell immunodeficiency, and low levels of facteur thymique serique (FTS). In vitro incubation of the peripheral blood lymphocytes with thymosin alpha 1 showed no increase in the number of T cells on two occasions. A fetal thymus for transplantation was not available, and further review of past experience with thymic cells or factors revealed inconsistent and incomplete responses. Because of the patient's worsening clinical and immunologic status, BMT was performed, with her histocompatible brother as donor. The patient has had a good clinical and immunologic response to BMT, with evidence of T cell engraftment, improved B cell function, and increased levels of serum FTS. This experience indicates that minimal thymic influence is necessary for successful BMT and that patients with DiGeorge syndrome with significant T cell deficiency may benefit from this treatment.
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PMID:Bone marrow transplantation in DiGeorge syndrome. 329 95

Di George syndrome is caused by anomalous development of the organs arising from the third and fourth pharyngeal pouches and results in congenital aplasia of the thymus, aplasia or hypoplasia of the parathyroid glands and cardiovascular malformations. Clinically, affected children show hypoparathyroidism and, because of depressed cell-mediated immunity, serious bacterial, viral and fungal infections. We present an infant, aged 6 weeks, with convulsions due to hypocalcemia, in which cell-mediated immunodeficiency was detected. Additionally diagnostic and therapeutic possibilities in DiGeorge syndrome are shown.
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PMID:[DiGeorge syndrome--significance of early diagnosis in cellular immunodeficiency]. 387 89

Monozygotic male twins with DiGeorge's syndrome had facial dysmorphism, cardiovascular abnormalities, hypocalcemia, and immunodeficiency; however, they showed differences in several aspects of this developmental complex. An early gestational insult, rather than a mutation, may be one cause of this heterogenous disorder. One twin had clinically appreciable hypoparathyroidism and had received calcitriol since early infancy. Despite close monitoring of therapy, he experienced two episodes of unexpected and prolonged hypercalcemia. Following the first episode, he was eucalcemic for nine weeks without therapy, attesting to the prolonged biological effects of calcitriol when used in the treatment of hypoparathyroidism.
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PMID:DiGeorge's syndrome in monozygotic twins. Treatment with calcitriol. 668 80

The clinical features of a 7-year-old girl with enamel hypoplasia secondary to autoimmune hypoparathyroidism and chronic mucocutaneous candidiasis are detailed. The combination of features are typical of a rare, probably genetically determined immunodeficiency termed candidiasis endocrinopathy syndrome (CES). Affected individuals have chronic mucocutaneous candidiasis and a spectrum of autoimmune endocrinopathies, including hypoparathyroidism, adrenocortical hypofunction, and diabetes mellitus. Treatment includes long-term management of the candidal infection and correction of any associated endocrinopathy.
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PMID:Enamel hypoplasia secondary to candidiasis endocrinopathy syndrome: case report. 761 99

A 34-year-old man with partial DiGeorge syndrome suffered from seizures and mental retardation from the age of three years. He was diagnosed as having primary hypoparathyroidism by the Ellsworth-Howard test at the age of 22. He was also found to have a right aortic arch. Immunological studies revealed the presence of immature T cells (CD 38+, OKT 9+), although the subsets and function of his T cells were almost normal. The facts that the cardiovascular anomaly and immunodeficiency were mild and the hypoparathyroidism was well controlled, may account for his survival to this age.
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PMID:Partial DiGeorge syndrome at the age of thirty-four. 794 42

DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, hypoparathyroidism, T-cell immunodeficiency and facial dysmorphism. They are frequently associated with deletions within 22q11.2, but a number of cases have no detectable molecular defect of this region. A number of single case reports with deletions of 10p suggest genetic heterogeneity of DGS. Here we compare the regions of hemizygosity in four patients with terminal deletions of 10p (one patient diagnosed as having hypoparathyroidism and three as DGS) and one patient with a large interstitial deletion (diagnosed as VCFS). Fluorescence in situ hybridization (FISH) analysis demonstrates that these patients have overlapping deletions at the 10p13/10p14 boundary. A YAC contig spanning the shortest region of deletion overlap (SRO) has been assembled, and allows the size of SRO to be approximated to 2 Mb. As with deletions of 22q11, phenotypes vary considerably between affected patients. These results strongly support the hypothesis that haploinsufficiency of a gene or genes within 10p (the DGSII locus) can cause the DGS/VCFS spectrum of malformation.
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PMID:A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. 869 41


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