Amish, Mennonite, and Hutterite
Genetic Disorder Database

Severe Combined Immunodeficiency, due to CD3-delta deficiency

Disorder
OMIM #: #615617  (Click to access OMIM database)
Disorder: Severe Combined Immunodeficiency, due to CD3-delta deficiency 
Also known as: Immunodeficiency 19 (IMD19)
SCID, T cell-negative, B cell-positive, NK cell-positive 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
ReferencesLam S, Kavadas FD, Haider S, Noseworthy ME. (2014) The respiratory presentation of severe combined immunodeficiency in two Mennonite children at a tertiary centre highlighting the importance of recognizing this pediatric emergency. Can Respir J Jan-Feb;21(1):17-9.
PubMed ID: 24288697
1   Old Colony Mennonite, Unknown / Other Mennonite  
Gene: CD3D
Base Change: C>T, at nucleotide 202
Amino Acid Change: arg 68 --> term
Last updated: 2019-01-10 

References
Dadi HK, Simon AJ, Roifman CM. (2003) Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med Nov 6;349(19):1821-8.
PubMed ID: 14602880 
Lam S, Kavadas FD, Haider S, Noseworthy ME. (2014) The respiratory presentation of severe combined immunodeficiency in two Mennonite children at a tertiary centre highlighting the importance of recognizing this pediatric emergency. Can Respir J Jan-Feb;21(1):17-9.
PubMed ID: 24288697 
Marcus N, Takada H, Law J, Cowan MJ, Gil J, Regueiro JR, Plaza Lopez de Sabando D, Lopez-Granados E, Dalal J, Friedrich W, Manfred H, Hanson IC, Grunebaum E, Shearer WT, Roifman CM. (2011) Hematopoietic stem cell transplantation for CD3δ deficiency. J Allergy Clin Immunol Nov;128(5):1050-7.
PubMed ID: 21757226 

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