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DiGeorge Syndrome (Syndrome, DiGeorge)

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Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

Also Known As:

Syndrome, DiGeorge; Velocardiofacial Syndrome; Conotruncal Anomaly Face Syndrome; DiGeorge Anomaly; DiGeorge Sequence; Familial Third and Fourth Pharyngeal Pouch Syndrome; Hypoplasia of Thymus and Parathyroids; Pharyngeal Pouch Syndrome; Third and Fourth Pharyngeal Pouch Syndrome; Thymic Aplasia Syndrome; Velo-Cardio-Facial Syndrome; Pharyngeal Pouch Syndromes; Syndrome, Velo-Cardio-Facial; Syndrome, Velocardiofacial; Thymic Aplasia Syndromes; Velo Cardio Facial Syndrome

Networked: 437 relevant articles (7 outcomes, 25 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mumps
2.	Measles
3.	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease)
4.	DiGeorge Syndrome (Syndrome, DiGeorge)
5.	Cleft Palate (Palate, Cleft)

Experts

1.	Markert, M Louise: 17 articles (07/2015 - 08/2003)
2.	Kates, Wendy R: 12 articles (05/2015 - 04/2005)
3.	Sullivan, Kathleen E: 12 articles (11/2013 - 10/2003)
4.	Morrow, Bernice E: 10 articles (05/2015 - 05/2002)
5.	Antshel, Kevin M: 10 articles (12/2012 - 04/2005)
6.	Devlin, Blythe H: 10 articles (10/2012 - 04/2004)
7.	Emanuel, Beverly S: 9 articles (05/2015 - 11/2003)
8.	Baldini, Antonio: 8 articles (04/2015 - 09/2003)
9.	Fremont, Wanda: 8 articles (12/2012 - 04/2005)
10.	Shprintzen, Robert J: 8 articles (12/2012 - 12/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to DiGeorge Syndrome:

1.	ThymosinIBA 12/01/2012 - "Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly." 07/01/1980 - "These results suggest, however, that further trials with thymosin F5 therapy may be indicated in patients with the DiGeorge syndrome." 07/01/1980 - "Thymosin therapy in the DiGeorge syndrome."
2.	Rubella VaccineIBA 10/01/2010 - "Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome."
3.	Shprintzen VCF syndromeIBA 11/21/2013 - "Moreover, we applied our approach to identify connect-ability defects in neurons from a mouse model of 22q11.2 deletion syndrome/DiGeorge syndrome, by comparative trials with wild type preparations. " 12/01/2009 - "Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)." 02/01/2005 - "This study examined memory functioning in children and adolescents with 22q11.2 Deletion Syndrome (DS; velocardiofacial syndrome). " 09/01/2015 - "Social cognition dysfunction in adolescents with 22q11.2 deletion syndrome (velo-cardio-facial syndrome): relationship with executive functioning and social competence/functioning." 05/07/2015 - "The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. "
4.	Messenger RNA (mRNA)IBA 08/01/2014 - "The purpose of the current study was to evaluate the DiGeorge syndrome critical region gene 8 (DGCR8) and argonaute 2 (AGO2) mRNA expression in CRC and to evaluate the value of clinical parameters on their expression. " 07/01/2014 - "The objective of the current study was to evaluate Drosha, the DiGeorge syndrome critical region gene 8 (DGCR8), Dicer, and Argonaute 2 (AGO2) mRNA expression in invasive breast carcinoma (IBC) and to assess the value of clinical parameters on their expression. " 12/01/2014 - "To investigate the regulations of microRNA (miRNA) biogenesis-related components, argonaute 2 (AGO2) and DiGeorge syndrome critical region gene 8 (DGCR8) mRNA expression in SSNHL and to evaluate the value of clinical parameters on their expression. " 07/01/1998 - "T cell subsets from a patient with DiGeorge anomaly were examined for the expression of Fas, FasL, Bcl-2 and Bcl-XL at the protein level with monoclonal antibodies, using dual-colour flow cytometry, and at the mRNA level in mononuclear cells by quantitative reverse transcriptase-polymerase chain reaction. "
5.	DNA ProbesIBA 02/28/1999 - "This study also suggested that systematic approaches with several small DNA probes along the DGCR could help to dissect the complex phenotypes associated with the DiGeorge syndrome, such as cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, etc." 10/01/2006 - "FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. "
6.	MicroRNAs (MicroRNA)IBA 09/18/2015 - "DGCR8 (DiGeorge syndrome critical region gene 8) is essential for primary microRNA (pri-miRNA) processing in the cell nucleus. " 03/10/2014 - "We found that MeCP2 binds directly to DiGeorge syndrome critical region 8 (DGCR8), a critical component of the nuclear microRNA-processing machinery, and interferes with the assembly of Drosha and DGCR8 complex. " 04/01/2013 - "Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome." 03/01/2013 - "Finally, OTA modulated microRNA processing by upregulating LINeage protein 28 and DiGeorge syndrome critical region-8, increasing the total pool of cellular microRNAs and elevating the expression of miR-132 and miR-200c. " 01/01/2013 - "Primary candidate genes are DGCR8 (DiGeorge syndrome critical region gene 8), which encodes a component of the microprocessor complex essential for microRNA biogenesis, and MIR185, which encodes microRNA 185. "
7.	Schmid-Fraccaro syndromeIBA 12/01/2010 - "The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. " 03/01/2010 - "Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. " 03/01/2008 - "These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted. " 05/01/1998 - "The clinical features in this child compromise characteristics of both the velo-cardio-facial syndrome (VCFS) and the cat-eye syndrome. " 07/01/2004 - "Segmental aneusomy, which includes chromosome 22 deletion syndrome (del(22)(q11.2q11.2)), has been associated with DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face (CAF) syndrome, cat-eye syndrome (CES), der(22) syndrome, and duplication of the del(22)(q11.2q11.2) syndrome's typically deleted region. "
8.	DNA (Deoxyribonucleic Acid)IBA 11/01/1993 - "We describe a mother and son with velo-cardio-facial syndrome (VCFS) in whom cytogenetic and DNA molecular studies demonstrate an interstitial deletion of the long arm of chromosome 22. " 02/01/2006 - "The low-copy repeat (LCR) is a new class of repetitive DNA element and has been implicated in many human disorders, including DiGeorge/velocardiofacial syndrome (DGS/VCFS). " 02/01/2004 - "We hybridized DNA from six DiGeorge syndrome patients to the array, and show that as little as 11.5 kb non-redundant, repeat-free PCR-generated sequence can be used for reliable detection of hemizygous deletions. " 11/15/2003 - "Recently a 46,XX male with velocardiofacial syndrome and a deletion of 22q11.2 and no evidence of Y chromosomal loci in blood DNA was reported (Phelan et al. [2003: Am J Med Genet 116A:77-79]). " 04/01/1998 - "In addition, we used a human cosmid DNA probe for DiGeorge syndrome which is located on chromosome 22 band q11.2 and was conserved within band 23q11.2 in apes. "
9.	Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA 07/01/1998 - "We have recently reported a strong association between velo-cardio-facial syndrome (VCFS) patients diagnosed with rapid-cycling bipolar disorder, and an allele encoding the low enzyme activity catechol-O-methyltransferase variant (COMT L). " 11/15/2010 - "The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study." 01/01/2007 - "Velocardiofacial syndrome is a genetic disorder associated with a microdeletion on the long arm of chromosome 22, and this segment is responsible for coding catechol-O-methyltransferase, an enzyme involved in dopamine degradation. " 09/20/1996 - "Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome." 06/01/2005 - "Several lines of evidence have implicated the catechol-O-methyltransferase (COMT) gene as a candidate for schizophrenia (SZ) susceptibility, not only because it encodes a key dopamine catabolic enzyme but also because it maps to the velocardiofacial syndrome region of chromosome 22q11 which has long been associated with SZ predisposition. "
10.	RNA-Binding Proteins (RNA-Binding Protein)IBA 09/13/2013 - "The core microprocessor component DiGeorge syndrome critical region 8 (DGCR8) is a nonspecific RNA-binding protein." 03/31/2011 - "Bone marrow-derived monocyte/macrophage precursors deficient of DiGeorge syndrome critical region gene 8, an RNA binding protein associated with miR biogenesis, and Dicer, an endoribonuclease in the RNaseIII family associated with miR biogenesis, possessed significantly decreased miR-21 levels and increased PDCD4 protein levels so that RANKL-induced osteoclastogenesis was impaired in those cells. " 11/01/2012 - "In this study, we investigated the expression profiles of the microprocessor complex subunit DiGeorge syndrome critical region gene 8 (DGCR8) and the RISC components argonaute-1 (AGO1), argonaute-2 (AGO2), as well as double-stranded RNA-binding proteins PACT, TARBP1, and TARBP2 in epithelial skin cancer and its premalignant stage. " 09/11/2014 - "In addition to core components (Drosha and DGCR8 [DiGeorge syndrome critical region gene 8]) in the microprocessor, regulatory RNA-binding proteins may confer the specificity for recruiting and processing of individual primary miRNAs (pri-miRNAs). "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 06/01/2011 - "Recently, we demonstrated the efficacy of parental parathyroid transplantation when combined with allogeneic thymus transplantation in an infant with complete DiGeorge anomaly. " 08/01/2008 - "Thymus transplantation shows promise for the treatment of athymia in complete DiGeorge anomaly. " 08/01/2003 - "Safety and efficacy of thymus transplantation were evaluated in 12 infants with complete DiGeorge syndrome who had less than 20-fold proliferative responses to phytohemagglutinin. " 05/15/2007 - "The purpose of this study was to characterize a large group of infants with complete DiGeorge anomaly and to evaluate the ability of thymus transplantation to reconstitute immune function in these infants. " 09/01/2014 - "Consent was obtained from 71 infants with complete DiGeorge anomaly for thymus transplantation, and 59 infants were transplanted. "
2.	Transplants (Transplant) 01/01/2015 - "A 4 year old child with MDS and DiGeorge Syndrome Type 2 was rescued with repetitive whole lung lavages and her PAP was cured with heterologous stem cell transplant. " 07/30/2012 - "Thymus transplants can correct deficiencies of the thymus epithelium caused by the complete DiGeorge syndrome or FOXN1 mutations. " 06/01/2011 - "Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly." 06/01/2009 - "After receiving thymic tissue grafts, patients suffering from DiGeorge anomaly develop T cells derived from their own precursors but matured in the donor tissue. " 03/01/2008 - "Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly."
3.	Plasma Exchange 11/01/2014 - "Refractory autoimmune hemolytic anemia in a patient with DiGeorge syndrome treated successfully with plasma exchange: a case report and review of the literature."
4.	Extracorporeal Membrane Oxygenation (ECMO) 11/01/2015 - "The study objective was to evaluate outcomes among children with del22q11 (DiGeorge) syndrome supported on ECMO for heart disease. " 06/01/2011 - "We report the first successful use of venovenous extracorporeal membrane oxygenation (ECMO) for refractory respiratory failure in an infant with DiGeorge anomaly, following thymus transplantation. " 06/01/2011 - "Successful extracorporeal membrane oxygenation for respiratory failure in an infant with DiGeorge anomaly, following thymus transplantation."
5.	Intrauterine Blood Transfusion 08/01/2000 - "We describe a girl with DiGeorge anomaly and normal cytogenetic and molecular studies, whose clinical course was complicated by graft versus host disease caused by intrauterine materno-fetal transfusion, and several immunohematological alterations including a monoclonal gammapathy of undetermined significance (first IgG, which subsequently changed to IgM). "