Amish, Mennonite, and Hutterite
Genetic Disorder Database

Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive

Disorder
OMIM #: #601457  (Click to access OMIM database)
Disorder: Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive 
Also known as: SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE 
Clinical
Phenotype: severe combined immunodeficiency, failure to thrive, sepsis, pneumonia, respiratory tract infections 
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: 2015-04-15 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 
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 Jul;128(1):31-8.
PubMed ID: 18442948 

Back