DiGeorge Syndrome (Syndrome, DiGeorge)

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; 22q11.2 Deletion Syndrome; 22q11.2DS; Autosomal Dominant Opitz G-Bbb Syndrome; Catch22; Conotruncal Anomaly Face Syndrome; Conotruncal Anomaly Face Syndrome (CTAF); Deletion 22q11.2 Syndrome; DiGeorge Anomaly; DiGeorge Sequence; Familial Third and Fourth Pharyngeal Pouch Syndrome; Hypoplasia of Thymus and Parathyroids; Pharyngeal Pouch Syndrome; Sedlackova Syndrome; Shprintzen Syndrome; Shprintzen VCF Syndrome; Third and Fourth Pharyngeal Pouch Syndrome; Thymic Aplasia Syndrome; VCF Syndrome; Velo-Cardio-Facial Syndrome; Autosomal Dominant Opitz G Bbb Syndrome; Deletion Syndrome, 22q11.2; Syndrome, Sedlackova; Syndrome, Shprintzen; Syndrome, VCF; Syndrome, Velo-Cardio-Facial; Syndrome, Velocardiofacial; Velo Cardio Facial Syndrome

Networked: 680 relevant articles (18 outcomes, 69 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Schizophrenia (Dementia Praecox)
2.	Mumps
3.	Measles
4.	Obesity
5.	Mental Disorders (Mental Disorder)

Experts

1.	Bassett, Anne S: 19 articles (01/2022 - 11/2011)
2.	Markert, M Louise: 18 articles (01/2022 - 08/2003)
3.	Gothelf, Doron: 17 articles (09/2022 - 10/2003)
4.	Eliez, Stephan: 15 articles (09/2022 - 11/2005)
5.	McDonald-McGinn, Donna M: 15 articles (06/2022 - 09/2004)
6.	Boot, Erik: 13 articles (01/2022 - 11/2010)
7.	Baldini, Antonio: 13 articles (11/2021 - 09/2003)
8.	Zackai, Elaine H: 11 articles (06/2022 - 10/2003)
9.	Emanuel, Beverly S: 11 articles (01/2020 - 09/2004)
10.	Simon, Tony J: 11 articles (01/2020 - 09/2004)

Drugs and Biologics

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

1.	Clozapine (Clozaril)FDA LinkGeneric 06/01/2023 - "We present the case of a 40-year-old female patient diagnosed with TRS and 22q11.2DS who was effectively treated with clozapine. " 06/01/2023 - "Clozapine may serve as an efficacious pharmacological intervention for TRS patients with 22q11.2DS, including those of Asian descent." 05/01/2021 - "Clozapine-induced gastroesophageal rumination in 22q11.2 Deletion Syndrome. " 06/01/2015 - "We retrospectively studied the long-term safety and efficacy of clozapine in 40 adults with schizophrenia, half with a 22q11.2 deletion (22q11.2DS group) and half matched for age and clinical severity but molecularly confirmed to have no pathogenic copy number variant (idiopathic group). " 06/01/2023 - "A case study of the utilization of clozapine treatment for treatment-resistant schizophrenia associated with 22q11.2 deletion syndrome."
2.	Antipsychotic Agents (Antipsychotics)IBA 11/01/2019 - "Randomized clinical trials are needed to make firm conclusions regarding risk of adverse effects of antipsychotics in patients with 22q11.2DS." 12/01/2020 - "Psychiatric medications such as antipsychotics are commonly used in individuals with 22q11.2DS. " 08/31/2020 - "This case suggests that the genetic defect in DiGeorge syndrome might have a great association with psychiatric problems and response of antipsychotics." 08/31/2020 - "Important Consideration in Choosing Antipsychotics in the Treatment of Patients with 22q11.2 Deletion Syndrome: Risk of Convulsion." 11/01/2019 - "Many of these symptoms are manifestations of 22q11.2DS, also in the absence of antipsychotic medication. "
3.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 11/15/2017 - "Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome." 10/15/2016 - "Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome."
4.	Antidepressive Agents (Antidepressants)IBA 01/01/2017 - "We observed significant improvement in CGI-Severity scores in individuals with 22q11.2DS treated with antipsychotic or antidepressant medications, and a ∼50% response rate based on the CGI-Improvement score. " 01/01/2017 - "The purpose of this study was to evaluate the effectiveness and safety of antipsychotic and antidepressant medications in individuals with 22q11.2 deletion syndrome (22q11.2 DS) and psychiatric comorbidity. " 01/01/2017 - "Our data show that treatment with antipsychotics and antidepressants may be effective while being relatively safe in individuals with 22q11.2DS. " 01/01/2017 - "The Effectiveness and Safety of Antipsychotic and Antidepressant Medications in Individuals with 22q11.2 Deletion Syndrome." 08/31/2020 - "Recent study on adults with 22q11.2DS reported that the most common trigger for provoked seizures was the use of antipsychotics and antidepressants. "
5.	ThymosinIBA 12/01/2012 - "Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly." 09/01/1979 - "Thymosin-induced leukocyte histamine release reaction in an infant with DiGeorge syndrome." 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."
6.	Aripiprazole (Abilify)FDA Link 12/01/2020 - "Efficacy of Low-Dose Aripiprazole for Treatment of Psychotic Symptoms in a Patient with 22q11.2 Deletion Syndrome." 07/01/2023 - "Is Aripiprazole Useful for Treatment of Psychotic Symptoms in a Patient With 22q11.2 Deletion Syndrome?: A Case Series." 08/16/2010 - "Treatment of schizophreniform disorder by aripiprazole in a female adolescent with 22q11.2 deletion syndrome." 01/01/2008 - "Velocardiofacial Syndrome-Associated Psychiatric Illness and Response to Aripiprazole: A Case Study."
7.	Riluzole FDA LinkGeneric 08/01/2019 - "Riluzole effectively treats psychotic symptoms and improves cognition in 22q11.2 deletion syndrome: A clinical case." 01/01/2020 - "Possibly, riluzole may have memory-enhancing effects in 22q11.2DS. " 01/01/2020 - "We aimed to examine alterations of glutamate/GABA metabolites in 22q11.2DS in vivo using riluzole, a compound with glutamate/GABA-modulating action, as pharmacological challenge. "
8.	PhytohemagglutininsIBA 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. " 02/01/1977 - "Patients wiith DiGeorge syndrome have no delayed hypersensitivity, cannot be actively sensitized with dinitrochlorobenzene, reject allografts poorly, and have no lymphocytic response to phytohemagglutinin antigens."
9.	Rubella VaccineIBA 10/01/2010 - "Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome."
10.	Polytetrafluoroethylene (Teflon)FDA Link 10/01/2016 - "An opportunity for exploring the trajectory of FEP and for investigating the efficacy of preventive treatments exists in 22q11.2 deletion syndrome (22q11DS), which has a 30% psychotic transition rate. "

Therapies and Procedures

1.	Transplantation 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. " 03/01/2008 - "This study provides in vitro evidence for long-term tolerance of complete DiGeorge anomaly thymus transplantation recipients toward their HLA-nonmatched thymus grafts." 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. " 01/01/2023 - "Thus, this technique opens up the possibility of freezing and storing large volumes of thymus tissue for immediate transplantation into patients with DiGeorge syndrome or atypical (Omenn-like) phenotype."
2.	Therapeutics 01/01/2022 - "These established hiPSC lines showed self-renewal and pluripotency and carried a hemizygous deletion in 22q11.2. Since the molecular pathogenesis of DiGeorge syndrome caused by the 22q11.2 deletion is largely unknown, these cell resources will be useful for recapitulating disease phenotypes and for developing new therapies for DiGeorge syndrome." 01/01/2019 - "Our results indicate that PBLT is a simple and effective therapy to reconstitute immune systems in CHARGE/DiGeorge syndrome." 02/01/2006 - "The phenotypic spectrum of DiGeorge syndrome has been further developed, along with promising advances in therapy. " 11/01/1998 - "BMT is thus an effective therapy for DiGeorge syndrome." 01/01/2018 - "To begin to assess the feasibility and efficacy of non-pharmacological therapies in 22q11.2DS, we performed a systematic search to identify literature on non-pharmacological interventions for psychiatric disorders in individuals with 22q11.2DS. "
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.	Ligation 01/01/2023 - "We recruited 27 patients with 22q11.2DS using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). " 01/01/2020 - "Genetic molecular analysis using a fluorescence in situ hybridization (FISH) technique was conducted as part of routine 22q11.2DS screening, followed by multiplex ligation-dependent probe amplification (MLPA), which serves as a confirmatory test. " 01/01/2020 - "Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method." 06/01/2019 - "At our hospital, multiplex ligation-dependent probe amplification confirmed that the patient had 22q11.2 deletion syndrome. " 01/01/2019 - "All of them were investigated for 22q11.2DS by Fluorescent in situ Hybridization (FISH) and/or Multiplex Ligation Probe-dependent Amplification (MLPA), detecting 98 cases with 22q11.2DS. "
5.	Transcranial Direct Current Stimulation 01/01/2016 - "The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. " 01/01/2016 - "Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. " 01/01/2016 - "Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. "