eMedicine Specialties > Allergy and Immunology > Immunodeficiencies
DiGeorge Syndrome: Follow-up
Updated: Aug 3, 2009
Follow-up
Further Inpatient Care
- Close monitoring of the calcium level is required.
- Prevention of infections should remain a top priority.
- Treatment of immunodeficiency includes the following:
- Use the usual prophylactic regimens for T- and B-cell deficiency.
- Several therapies have been used to treat immunodeficiency associated with DiGeorge anomaly. Cases of immune reconstitution have been reported following transplantation of HLA-identical bone marrow, peripheral-blood mononuclear cells, and fetal thymus. However, some of these patients may have had partial DiGeorge anomaly, and improvement may have been coincidental.
- Markert et al reported a study of 5 patients with complete DiGeorge anomaly who were treated with allogeneic, cultured, postnatal thymus tissue. Of these patients, 4 developed immune reconstitution with T-cell proliferative responses to mitogens.23
- Early thymus transplantation (ie, before the onset of infectious complications) may promote successful immune reconstitution. Goldsobel et al reported that the results of thymus transplantation are disappointing. However, a significant number of patients in their group were lost to follow-up, and if their results are corrected accordingly, the benefits of thymus transplantation seem to be more impressive.24 T-cell function may improve in patients with partial DiGeorge anomaly; therefore, thymus transplantation is not indicated.
Further Outpatient Care
- Genetic counseling and screening
- Approximately 8% of the patients with DiGeorge anomaly or velocardiofacial (VCFS) studied by Driscoll et al showed familial transmission of 22q11 deletion.26
- Because subjects with 22q11 deletion have a 50% risk of transmitting the deletion, they should be offered genetic counseling and fluorescent in situ hybridization (FISH) for prenatal detection as early as 10-12 weeks of gestation by chorionic villus sampling.
- Recent studies show that 22q11 deletions occur in 20-30% of newborns with isolated conotruncal cardiac malformations. Therefore, screen all patients with conotruncal anomalies for 22q11 deletions, identify other family members at risk, and assess the risk in future pregnancies.
- Multidisciplinary care
- The complex medical care of patients needs a multidisciplinary approach, and every patient has his own unique clinical features that need a tailored approach. Patients with chromosome 22q11.2 deletion syndrome might have a high level of functioning, but most often need interventions to improve the function of many organ systems.
Prognosis
- Prognosis depends markedly on the degree of involvement/impairment of cardiac and immune system function.
- In a large European collaborative study, 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11 were evaluated by questionnaire.27 Eight percent of the patients died; more than half of the deaths occurred within the first month of life, and the majority occurred within 6 months of birth. Of the patients who survived, 62% had only mild learning problems or were developmentally normal. All but one of the deaths were attributable to congenital heart disease. Other clinical features varied as follows:
- Cleft palate, 9%
- Velopharyngeal insufficiency, 32%
- Hypocalcemia, 60%
- Cardiac problems, 75%
- Renal abnormality, 36% (of patients who had abdominal ultrasound)
- Small size (36% were <3rd percentile for either height or weight)
Miscellaneous
Medicolegal Pitfalls
- The utmost care must be taken to avoid nonirradiated blood products.
- Live vaccines are typically contraindicated in patients with DiGeorge anomaly and in household members of such patients because of the risk of shedding of live organisms; however, 2 recent studies show that live viral vaccines (LVVs) may be safe in select populations affected by DiGeorge anomaly.
- Azzari et al recently evaluated the safety and immunogenicity of measles-mumps-rubella (MMR) vaccine in children with congenital T-cell defect (DiGeorge anomaly).28 No severe adverse reactions were reported in the 14 patients included in the study. Patients and control subjects experienced the same frequency of seroconversion for measles and rubella. The mean titers of antimeasles or antirubella antibodies were the same in patients and controls, and no decrease in CD4 cells was detected after immunization.
- Moylett et al recently reviewed patients with partial DiGeorge syndrome at Texas Children's Hospital (Baylor College of Medicine).29 Forty-seven percent of the patients with partial DiGeorge syndrome received an LLV. No significant adverse events were recorded in association with administration of LVVs. At initial presentation, the difference between the cellular immune function of patients who received LVVs and of those who did not receive LVVs was not statistically significant. Adequate cellular immune function was documented for 15 of the 25 LVV recipients at the time of vaccine administration without significant change from baseline.
Special Concerns
- The neurological and psychiatric manifestations of 22q11DS require careful monitoring by experts as part of the multidisciplinary team approach to care.
- Psychiatric disorders are common in all patients with developmental delay; however, the association is stronger in patients with chromosome 22q11.2 deletion.
- The behavioral aspects of chromosome 22q11.2 deletion syndromes include attention deficit hyperactivity disorder, poor social interaction skills, impulsivity, and bland affect. Bipolar disorder, autistic spectrum disorder, schizophrenia, and schizoaffective disorder are reported in 10–30% of teenagers and adults.
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Follow-up: DiGeorge Syndrome |
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References
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Further Reading
Keywords
DiGeorge syndrome, DiGeorge anomaly, DGA, thymic hypoplasia, thymic aplasia, third and fourth pouch syndrome, third and fourth arch syndrome, cellular immunodeficiency, hypoparathyroidism, 22q11 deletion syndromes, 22q11.2 deletion syndromes, 22q11DS, CH22qD syndrome, velocardiofacial syndrome, VCFS, Shprintzen syndrome, conotruncal anomaly face syndrome, Cayler syndrome, Opitz-GBBB syndrome, CHARGE syndrome, coloboma, heart anomalies, atresia of choanae, choanal atresia, retardation, genital hypoplasia, ear anomalies, hypocalcemia, fetal alcohol syndrome, FAS, FISH, FISH technique, fluorescent in situ hybridization, multiplex ligation-dependent probe amplification, MLPA
Follow-up: DiGeorge Syndrome