Omenn syndrome in an infant with IL7RA gene mutation.
Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.
Giliani
Silvia
S
Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, 25123 Brescia, Italy. giliani@master.cci.unibs.it
Bonfim
Carmen
C
de Saint Basile
Genevieve
G
Lanzi
Gaetana
G
Brousse
Nicole
N
Koliski
Adriana
A
Malvezzi
Mariester
M
Fischer
Alain
A
Notarangelo
Luigi D
LD
Le Deist
Francoise
F
D019943:Amino Acid Substitution; D003241:Consanguinity; D006801:Humans; D007223:Infant; D017493:Leukocyte Common Antigens / Q000378:metabolism; D008297:Male; D009154:Mutation; D010641:Phenotype; D020395:Receptors, Interleukin-7 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics*; D013601:T-Lymphocytes / Q000378:metabolism
D020395:Receptors, Interleukin-7; D017493:Leukocyte Common Antigens