Amish, Mennonite, and Hutterite
Genetic Disorder Database

Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive

Disorder
OMIM #: #608971  (Click to access OMIM database)
Disorder: Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive 
Also known as:  
Clinical
Phenotype: respiratory tract infections,sepsis, pneumonia, failure to thrive, cell-mediated immune deficiency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: IL7R
Base Change: T>G, at nucleotide 2
Amino Acid Change: met 1 --> arg
Last updated: 2015-10-28 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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