Omenn Syndrome Follow-up

Updated: Mar 01, 2017
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Follow-up

Further Outpatient Care

As noted, patient isolation to prevent the transmission of infection is compulsory.

Usually, contacts are restricted to immediate family members and friends whose risks for infection can be monitored.

Carefully orchestrate visits to doctors' offices and hospitals to prevent exposing the patient to infectious agents.

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Further Inpatient Care

Coordinating medical management of Omenn syndrome between immunologists, infectious disease specialists, pulmonologists, and gastroenterologists can be challenging. Bone marrow transplantation (BMT) is best coordinated between the immunologist and the BMT team.

The necessity for excellent laboratory and radiology support mandates hospitalization of the patient in a tertiary children's medical facility.

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Transfer

The great complexity of medical problems for any primary immunodeficiency disease requires that an immunologist treat the patient.

The subtle signs of infection, the need to offer stem cell transplantation, and the early deaths in Omenn syndrome indicate that frequent monitoring by a clinical immunologist is essential.

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Deterrence/Prevention

In families in whom the exact mutations have been established, prenatal diagnosis is possible by means of chorionic villus sampling or amniocentesis with DNA methods.

Fetal blood sampling for fluorocytometric testing and mitogen response assessments can aid in the diagnosis when DNA analysis is not available.

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Complications

Graft failure with BMT and posttransplantational graft versus host disease (GVHD) are well recognized, although the incidences of both have decreased because of improved BMT preparatory regimens and techniques.

Donor lymphocyte infusion with donor cord blood–derived activated CD4+ T cells has been reported to be an effective method to overcome the risk of graft rejection in stem cell transplant with residual cell-mediated immunity without compounding GVHD.

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Prognosis

Patients with Omenn syndrome have fully recovered after BMT, with or without pretransplantation immunosuppression. As with any BMT procedure, a risk of GVHD is recognized, even with a fully major histocompatibility complex (MHC)-matched donor. Transplantation outcomes have been assessed. [25]

Patients who do not receive BMT have not survived with the supportive management involving prophylactic antibiotics and parenteral nutrition alone. Interferon gamma has been administered in an effort to down-regulate interleukin 4 (IL-4) and interleukin 5 (IL-5) production. Cyclosporine therapy does improve the dermatitis and diarrhea while the workup for BMT is in progress.

A review of 68 patients with Omenn syndrome treated between 1965-1999 found the mortality rate of 28 patients who received BMT to be 47%. The main cause of death was respiratory failure and sepsis. More recently, an 18.2% mortality rate was reported in a series of hematopoietic stem cell transplantations (HSCT) in 11 patients with Omenn syndrome.

Diagnosis at birth may protect from infection and improve transplantation outcome. Neonatal screening for this disorder is desirable. [26]

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Patient Education

Inform families about the risks of infection so that appropriate steps to avoid exposure to infection can be instituted. They should be aware that live viral vaccines are contraindicated.

In obtaining adequate informed consent for stem cell reconstitution, the physician must review the high rate of GVHD, the risk of the failure to engraft, and the high risk for life-threatening infection during the preparative immunosuppressive regimen. Although successful complete immune reconstitution with BMT is reported with the use of fully matched related and unrelated donors or haploidentical parents, a failure to engraft may occur in patients with Omenn syndrome, or they may have posttransplantational GVHD.

The Immune Deficiency Foundation is an important resource for the education and support of patients and families with any primary immunodeficiency disease. Its current address is 25 W Chesapeake Ave, Suite 206, Towson, MD 21204; some states have local chapters. The Jeffrey Modell Foundation at 43 W 47th St, New York, NY 10036 also provides support and patient education.

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