Immunodeficiency associated with exomphalos-macroglossia-gigantism syndrome

Severe combined immunodeficiency disease was observed with the exomphalosmacroglossia-gigantism(EMG) syndrome in a female infant who died of Pneumocystis carinii pneumonia and intractable diarrhea. Two male siblings of this patient who died in infancy probably had similar immunodeficiency disease but no overt manifestations of the EMG syndrome. This report considers possible etiologic and pathogenetic relationships between the EMG syndrome and the immunodeficiency disorder.