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At a glance

It is a form of ☞Severe Combined Immunodeficiency Syndrome (SCIDS) that is characterized by erythroderma, desquamation, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. Clinically, patients develop fungal, bacterial, and viral infections typical of SCID.

Synonyms

Familial Reticuloendotheliosis Syndrome; Erythroderma Desquamation Syndrome.

Incidence

Unknown. The prevalence of all forms of SCID is estimated to be 1:50,000. Although this disorder has been reported throughout the world, it occurs mainly in North America and Europe.

Genetic inheritance

Autosomal recessive transmission.

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

Pathophysiology

Mutation in the RAG1 and RAG2 genes on chromosome 11p12 and the Artemis gene (DCLRE1C) on 10p13 impairs the function of Ig and T-cell receptors (TCRs) recombinase. Normal or elevated T-cell numbers are present, but these are of maternal not fetal origin. The B cells are usually undetectable, NK cells are present, and the total Ig level is markedly low with poor antibody production. Eosinophils and serum IgE level are elevated. Treatment often includes steroids, immunosuppressants, and interferon. This disease is uniformly fatal without bone marrow transplantation.

Diagnosis

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 human leukocyte antigen (HLA) typing confirming that T cells are of host origin.

Clinical aspects

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

Precautions before anesthesia

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.

Anesthetic considerations

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.

Pharmacological implications

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

Other condition to be considered

  • SCIDS (Severe Combined Immunodeficiency Syndrome): Severe Combined Immunodeficiency (SCID) is a heterogeneous group of syndromes related to alterations of distinct genes that cause abnormalities in the maturation and/or function of T, B, and/or NK cells. It is generally considered to be the most serious of the primary immunodeficiency diseases. ...

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