Inheritance: autosomal recessive (AR)
Mutations associated with the disorder include:
(1) recombinase-activated gene 1 (RAG1)
(2) recombinase-activated gene 2 (RAG2)
(3) ARTEMIS gene on chromosome 10p (SCID Athabascan)
(4) other unidentified
Clinical findings:
(1) erythroderma with exfoliative dermatitis
(2) recurrent infections
(3) variable diarrhea
(4) variable hepatosplenomegaly
(5) variable alopecia, which may be diffuse
(6) variable failure to thrive (secondary to diarrhea)
(7) variable lymphadenopathy
Laboratory findings:
(1) eosinophilia
(2) elevated serum IgE
(3) decreased serum IgG, IgM and IgA
(4) absolute lymphocyte count that is normal or decreased
(5) T cells showing abnormal function
(6) absent B cells
Most patients die during infancy secondary to overwhelming infection unless a bone marrow transplant (BMT) is performed.
