DermKnowledgeBASE: Digeorge Anomaly

Digeorge Anomaly

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The text is the summary of recent articles on Digeorge Anomaly at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.

The association between neural tube defect and the clinical diagnosis of Di George anomaly/velocardiofacial syndrome is well documented in the literature, but not all cases had molecular studies to determine breakpoint regions [1]. Seven athymic Infants with cDGA and non-maternal pretransplantation T cell clones were assessed [2]. T cell receptor variable β chain (TCR-Vβ) expression was assessed by flow cytometry [3]. Infants with Atypical cDGA develop rashes and autoimmune phenomena before transplantation, requiring treatment with immunosuppression, which was discontinued successfully subsequent to the observed thymopoiesis [4]. We should consider the disease if patients had congenital Heart disease, thymic hypoplasia, hypocalcemia and/or impaired Immune function [5].

For both Infants, the initial diagnosis was athymia secondary to complete digeorge anomaly [6]. Genetic analyses revealed that both patients had Artemis Deficiency, a rare form of severe combined immunodeficiency (SCID) [7]. Both Infants have subsequently undergone Bone marrow transplantation [8]. These cases illustrate the importance and paradox of differentiating SCID from complete digeorge anomaly because hematopoietic stem cell transplantation (HSCT) is the preferred treatment for SCID but is ineffective for complete digeorge anomaly [9]. In addition, several cases of Infants born to diabetic mothers presenting with features of digeorge anomaly have been reported [10].

Parathyroid transplantation offers the potential for definitive cure but remains challenging because of graft rejection [11]. Some allogeneic parathyroid grafts have functioned in Adult recipients in the context of immunosuppression for Renal transplantation [12]. Other efforts have attempted to reduce the allogenicity of the parathyroid grafts through manipulation of the parathyroid tissues before transplantation (by using encapsulation or special culture techniques) [13]. Recently, we demonstrated the efficacy of parental parathyroid transplantation when combined with allogeneic thymus transplantation in an Infant with complete digeorge anomaly [14]. The recipient developed tolerance toward the parathyroid donor [15].

The parathyroid graft has functioned for 5 years after transplantation without the need for continued immunosuppression or calcium supplementation [16]. A 23-month-old Female with complete immune-incompetent digeorge anomaly 65 days after allogenic thymus transplantation was treated in our Pediatric intensive care unit for acute respiratory failure secondary to bacterial sepsis [17]. She subsequently developed acute hypercarbic respiratory failure unresponsive to conventional medical therapy [18]. She was successfully managed with venovenous ECMO for 4 days, with complete resolution of her respiratory symptoms [19]. Although no immunological dysfunction could be demonstrated, the boy presented some manifestations of digeorge anomaly (DGA), which has been associated with monosomy for the same region of chromosome 22, velocardiofacial syndrome (VCFS), and the 3p deletion syndrome [20].

Clinical features include short stature, hypertelorism, low set Ears, cleft Lip with Cleft Palate, short Neck, truncus arteriosus, micropenis, clubfoot, over riding toes on right foot, four digits on left Foot and growth delay [21]. In addition he had feeding difficulties, respiratory infections, and developmental delay [22]. They demonstrated alloreactivity against the parathyroid donor in mixed lymphocyte cultures [23]. The third survivor has persistent graft function and lacks alloreactivity toward the parathyroid donor [24]. Tetramer analyses detected recipient T Cells specific for the parathyroid HLA-DRB1∗1104 allele [25].

Median length of follow-up was 13 months, with transplantation from HLA-matched sibling showing the best results [26]. Median survival among deceased patients (10 patients) was 7 months after transplantation (range, 2-18 months) [27]. Transplantation of postnatal allogeneic cultured thymus tissue was performed in sixty subjects with complete digeorge anomaly who were under the age of 2 years [28]. After receiving thymic tissue grafts, patients suffering from digeorge anomaly develop T cells derived from their own precursors but matured in the donor tissue [29]. Six biopsies from six patients with the distinctive clinical phenotype of Atypical complete DiGeorge anomaly were studied [30].

Such skin lesions from patients with digeorge anomaly should alert the pathologist to the potential diagnosis of Atypical complete digeorge anomaly [31]. All 25 subjects who were tested 1 year after transplantation had developed polyclonal T-cell repertoires and proliferative responses to mitogens [32]. Adverse events developing after transplantation included hypothyroidism in 5 subjects and enteritis in 1 subject [33]. Importantly, the Child presented without Neonatal hypocalcemia or velofacial or Cardiac abnormalities at the time of diagnosis, which masked underlying DG [34]. The aim of the present study was to evaluate safety and immunogenicity of measles-mumps-rubella (MMR) vaccine in Children with congenital T cell defect (DiGeorge anomaly) [35].

Using cytogenetic and fluorescence in situ hybridization (FISH) analysis we studied a series of 295 patients with suspected DG/VCFS [36]. The family history is significant for a brother who died at 2 weeks of age with myelomeningocele, hydrocephalus, transposition of the great vessels, and Unilateral Renal agenesis, and a sister who died at 11 days of age with myelomeningocele, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with digeorge anomaly [37]. Given the clinical findings, family history, and recent knowledge that open neural tube defects can occur in VCFS/DiGeorge anomaly, FISH analysis for 22q11-13 deletion was performed on the proband [38]. This condition shows a continuous spectrum of phenotypic manifestations with a considerable inter- and intrafamilial variability [39]. However, she had chronic Pulmonary infections which led to bronchiectasis [40].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 ,

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I have varied research interests ranging from eHealth, Health Information Exchange, Clinical Trials and Research, Contact Dermatitis, Bioinformatics, and Cosmetic Dermatology. I have work experience in Canada as an eHealth analyst, and in Dubai and India as a Specialist Dermatologist.


Bell Raj Eapen
Hamilton, ON