Disorders

Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related

Synonym(s): SCID, Autosomal Recessive, T-B+NK+ SCID

Gene	Locus	Protein
CD3E	11q23	T-cell surface glycoprotein CD3 epsilon chain

Laboratory	Test Method	Prenatal	Carrier *
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Sequence analysis of the entire coding region

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.