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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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Omenn syndrome
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Erythroderma and desquamation of the skin on the arms and hands of a 14-month-old patient with Omenn Syndrome.

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Omenn syndrome
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Omenn syndrome can also affect the feet, as seen in this infant with extensive desquamation of the skin.

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Familial Reticuloendotheliosis Syndrome; Erythroderma Desquamation Syndrome.

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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.

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Autosomal recessive transmission.

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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.

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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.

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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.

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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.

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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.

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

Stephan JL: Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatrics 123:564, 1993.  [PubMed: 8410508]

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