Omenn's syndrome and related combined immunodeficiency syndromes: diagnostic considerations in infants with persistent erythroderma and failure to thrive.
A 4-month-old male infant had a 2-month history of an exfoliative erythroderma and alopecia. Recurrent mucosal infections, diffuse lymphadenopathy, hepatosplenomegaly, lymphocytosis and eosinophilia, anemia, and failure to thrive later developed. Investigation revealed a combined immunodeficiency with T cells of an unusual phenotype in his peripheral blood, skin, and lymph nodes. Our patient's clinical manifestations most closely resemble Omenn's syndrome, a rare form of autosomal recessive combined immunodeficiency.
Pupo
R A
RA
Department of Dermatology, University of Texas Medical Branch, Galveston 77550.
Tyring
S K
SK
Raimer
S S
SS
Wirt
D P
DP
Brooks
E G
EG
Goldblum
R M
RM
D000505:Alopecia / Q000473:pathology; D003873:Dermatitis, Exfoliative / Q000473:pathology; D003937:Diagnosis, Differential; D005183:Failure to Thrive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000473:pathology; D007223:Infant; D008297:Male; D013577:Syndrome; D013601:T-Lymphocytes / Q000473:pathology