[MIM 603 554]

(familial eosinophilic reticuloendotheliosis)

Prévalence: < 1/106. Severe combined congenital immunodeficiency. Autosomal recessive transmission of mutations of the RAG1 (11p12), RAG 2 (11p12) ou  DCLRE1C (10p13) gene.

Onset between 1 and 4 months of age: erythroderma with important skin desquamation, hepatosplenomegaly, frequent infections (bacterial, fungal, viral), eosinophilia with high IgE levels, alopecia, chronic diarrhea. Elevation of T lymphocytes level ( poorly efficient) and virtual absence of lymphocytes B with low IgG, IgA and IgM levels .

It may be associated with other genetic diseases such as: cartilage-hair hypoplasia, adenosine deaminase deficiency, 22q11 monosomy, CHARGE syndrome and ligase 4 syndrome.

High mortality. Only treatment: bone marrow or stem cell transplantation

Anesthetic implications:

risk of infection; transfusion of irradiated red cells to prevent graft-versus-host disease; disturbance of thermoregulation

References : 

• Aleman K, Noordzijn JG, van Dongen JD, Hartwig NG. 
  Reviewing Omenn syndrome. 
  Eur J Pediatr 2001; 160:718-25.

Updated: July 2023