Immunological aspects of immunodeficiency diseases part 54

Immune 3

 

About 15 percent of SCID cases are caused by deficiency of adenosine deaminase (ADA), an enzyme required for the salvage of nucleotides within lymphoid cells. The lack of ADA causes the accumulation of toxic metabolites of adenosine (deoxy-adenosine and deoxy-ATP) within lymphoid cells, resulting in their demise. ADA deficiency  results in profound  lymphopenia affecting T cells, B cells, and NK cells. Rarely, mutations of ADA causing milder forms of enzyme deficiency lead to a milder form of combined immunodeficiency presenting at  a later stage in life. Purine nucleoside phosphorylase (PNP) is an enzyme required for purine salvage within lymphocytes, and PNP deficiency causes a milder phenotype of SCID than seen in ADA deficiency. SCID due to PNP deficiency not treated with HSCT is fatal in childhood.

Advertisements

About azaleaazelia

A nice person... :)
This entry was posted in Tak Berkategori. Bookmark the permalink.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s