++
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.
++
++
++++
++
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.
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]