Omenn Syndrome

Form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. Clinically, patients develop fungal, bacterial, and viral infections typical of SCID.

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Familial Reticuloendotheliosis Syndrome; Erythroderma Desquamation Syndrome.

Frequency in the United States is difficult to ascertain; however, the prevalence of all forms of SCID is estimated to be 1:50,000 population. Although this disorder has been reported throughout the world, it occurs mainly in North America and Europe.

Autosomal recessive transmission.

Immunodeficiency secondary to defective T lymphocytes and lack of B cells. Treatment often includes steroids, immunosuppressants, and interferon. This disease is uniformly fatal without bone marrow transplantation. It could be caused by a defect in an ectoenzyme 5′-nucleotidase. Lymphocytosis results from expansion of an oligoclonal population of activated and antigen-stimulated T-helper type 2 (Th2) cells that produce elevated levels of interleukin (IL)-4) and IL-5. The latter cytokines mediate eosinophilia and elevated immunoglobulin E (IgE) levels.

Diagnosis based on clinical and immunologic criteria, including erythema, pachyderma, alopecia, failure to thrive, elevated T-cell counts (in contrast to other SCIDs), increased IgE, eosinophilia, and DNA or HLA typing confirming that T cells are of host origin.

Early presentation (approximately 4 months of age). It is characterized by pulmonary infections, skin eruption (maculopapular rash and severe seborrhea with histiocytic infiltration). Hepatosplenomegaly, lymphadenopathy, diarrhea (66%), lung infections (41%), opportunistic infections (23%), candidiasis (16%), fever (16%), sepsis (16%) have been reported.

Check blood counts, chest radiograph, and fluid and electrolyte status must be obtained. All blood products should be irradiated to prevent graft-versus-host disease transmission.

Aseptic technique. Use only irradiated blood to prevent lethal graft-versus-host disease reaction. Consider the use of leukocyte depletion filters. Temperature regulation and monitoring are mandatory.

Administration of preoperative steroid must be considered. Any anesthetic medication resulting in histamine release should be used judiciously.