- Autossomal recessive form of Severe Combined Immunodeficiency (SCID)
- Failure to thrive
- Leukocytosis with eosinophilia
- Hypogammaglobulinemia
- Elevated IgE levels
- Skin: erythrodema + diffuse alopecia
- Prominent lymphadenopathy, hepatosplenomegaly, recurrent diarrhea
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