Amish, Mennonite, and Hutterite
Genetic Disorder Database

Severe Combined Immunodeficiency, due to adenosine deaminase deficiency

Disorder
OMIM #: #102700  (Click to access OMIM database)
Disorder: Severe Combined Immunodeficiency, due to adenosine deaminase deficiency 
Also known as: SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, SCID DUE TO ADA DEFICIENCY, ADA-SCID, SCID DUE TO ADA DEFICIENCY, EARLY-ONSET, SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED, SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED 
Clinical
Phenotype: sepsis, pneumonia, respiratory tract infections, failure to thrive 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: ADA
Base Change: G>A, at nucleotide 646
Amino Acid Change: gly 216 --> arg
2   Old Colony Mennonite, Unknown / Other Mennonite  
Gene: ADA
Base Change: C>T, at nucleotide 424
Amino Acid Change: arg 142 --> term
Last updated: 2018-04-19 

References
Hirschhorn R, Chakravarti V, Puck J, and Douglas SD. (1991) Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am J Hum Genet 49(4): 878-885.
PubMed ID: 1680289 
Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML, et al. (1995) Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Hum Mol Genet 4(11): 2081-2087.
PubMed ID: 8589684 

Back