Amish, Mennonite, and Hutterite
Genetic Disorder Database

Omenn syndrome

Disorder
OMIM #: #603554  (Click to access OMIM database)
Disorder: Omenn syndrome 
Also known as: Reticuloendotheliosis, familial, with eosinophilia
severe combined immunodeficiency with hyper eosinophilia 
Clinical
Phenotype: alopecia, erythroderma, hepatosplenomegaly, hypereosinophilia, immunoglobin deficiency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: RAG1
Base Change: A>G, at nucleotide 2974
Amino Acid Change: lys 992 --> glu
Last updated: 2014-12-03 

References
Strauss KA, Puffenberger EG, Bunin N, Rider NL, Morton MC, Eastman JT 3rd, Morton DH. (2008) Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. Clin Immunol 128(1):31-8.
PubMed ID: 18442948 

Back