X-SCID

X-SCID

Infobox_Disease
Name = X-SCID


Caption =
DiseasesDB = 33502
ICD10 = ICD10|D|80|0|d|80
ICD9 = ICD9|279.2
ICDO =
OMIM = 300400
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D053632

X-linked Severe Combined Immunodeficiency (X-SCID) is a profound and severe immunodeficiency characterized by the complete absence of NK cells and T cells in the peripheral blood.

Cause

It is caused by mutations of the IL2RG gene. This gene codes for the Cytokine receptor common gamma chain, a receptor for a number of cytokines involved in maintaining T cell homeostasis and stimulating immune cell development. Without a functional receptor, the cells cannot develop normally, and are unable to protect the body.

Prognosis

Patients with this condition suffer severe and recurrent infections that are usually fatal in the first years of life.

ee also

*Severe combined immunodeficiency
*List of genetic disorders


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  • SCID — Pathol. See severe combined immune deficiency. * * * …   Universalium

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  • SCID — Structured Clinical Interview For DSM (Medical » Laboratory) Structured Clinical Interview for DSM (Medical » Hospitals) * Severe Combined Immunodeficiency Disorder (Medical » Physiology) * Spacecraft Identification (Governmental » NASA) …   Abbreviations dictionary

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