SCID by WILLA HEALEY

OVERVIEW OF Severe Combined Immunodeficin

willa_healey — 2016-09-21 02:37:32 UTC

A person born with SCID has little to no in the way of an immune system, which make a person especially susceptible to illness.

Diaognosis

willa_healey — 2016-09-21 02:39:59 UTC

Early diagnosis is very rare, because it isn't normal for white blood cell counts to be taken in infancy. Generally babies are diagnosed at around six months old, generally because of excessive reoccurring infections.

SEVERE COMBINED IMMUNODEFICINCY

willa_healey — 2016-09-21 02:46:46 UTC

Willa Healey

Symptoms

willa_healey — 2016-09-21 02:46:47 UTC

Generally, babies exhibit persistence of the following symptoms:

Eight or more ear infections
Two or more cases of pneumonia
Infections that do not resolve with antibiotic treatment for two or more months
Failure to gain weight or grow normally
Infections that require intravenous antibiotic treatment
Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver
Persistent thrush in the mouth or throat
A family history of immunodeficiency or infant deaths due to infection

Life Expectancy

willa_healey — 2016-09-21 02:51:33 UTC

Depending on diagnosis time, life expectancy varies. Generally people are diagnosed very young.

There is no real life expectancy

What Gene or Chromosome is Affected by This Disorder?

willa_healey — 2016-09-21 03:05:45 UTC

There are two types of SCID. One type, XSCID, is linked to the X chromosome, which causes mutations to IL2RG, which is a key factor in creating a receptor on the surface of a lymphocyte.

Adenosine deaminase deficiency SCID, commonly called ADA SCID, is a very rare genetic disorder. It is caused by a mutation in the gene that encodes a protein called Adenosine deaminase (ADA), This ADA protein is an enzyme needed by all body cells to create fresh DNA.

Who Can Be Affected By SCID

willa_healey — 2016-09-21 03:11:38 UTC

Anyone could get SCID

How SCID is Inherited

willa_healey — 2016-09-21 03:16:10 UTC

One version of SCID is X linked, however ADA deficiency is caused by a mutation in the gene that encodes a protein called adenosine deaminase.

willa_healey — 2016-09-21 03:36:43 UTC

The most effective found treatment for SCID is a blood forming stem cell transplant from the bone marrow of a healthy person. However, most patients do not have a matched sibling donor, so transplants from a parent of unrelated matched donor are often performed.

Bibliography

willa_healey — 2016-09-21 03:37:38 UTC

"Learning About Severe Combined Immunodeficiency (SCID ..." 2016. 13 Sep. 2016 <https://www.genome.gov/13014325/learning-about-severe-combined-immunodeficiency-scid/>

willa_healey — 2016-09-22 15:28:30 UTC

willa_healey — 2016-09-22 15:29:44 UTC

willa_healey — 2016-09-22 15:30:26 UTC

willa_healey — 2016-09-22 15:32:19 UTC

willa_healey — 2016-09-22 15:32:48 UTC