SEVERE COMBINED IMMUNODEFICIENCY

Pronunciation (US):

(GB):

IPA (US):

 Dictionary entry overview: What does severe combined immunodeficiency mean? 

• SEVERE COMBINED IMMUNODEFICIENCY (noun)
  The noun SEVERE COMBINED IMMUNODEFICIENCY has 1 sense:

1. a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life

  Familiarity information: SEVERE COMBINED IMMUNODEFICIENCY used as a noun is very rare.

 Dictionary entry details 

• SEVERE COMBINED IMMUNODEFICIENCY (noun)

Sense 1

Meaning:

A congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life

Classified under:

Nouns denoting stable states of affairs

Synonyms:

SCID; severe combined immunodeficiency; severe combined immunodeficiency disease

Hypernyms ("severe combined immunodeficiency" is a kind of...):

immunodeficiency (immunological disorder in which some part of the body's immune system is inadequate and resistance to infectious diseases is reduced)

monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)

Hyponyms (each of the following is a kind of "severe combined immunodeficiency"):

ADA-SCID (SCID resulting from mutation of a gene that codes for adenosine deaminase)

X-linked SCID; X-SCID (SCID in male children resulting from mutation of a gene that codes for a protein on the surface of T cells that allows them to develop a growth factor receptor)

 Context examples 

Mutations in this X-chromosome-linked gene cause X-linked severe combined immunodeficiency (XSCID).

(Interleukin 2 Receptor Gamma, NCI Thesaurus)

Mutations in the gene cause X-linked severe combined immunodeficiency or (XSCID).

(IL2RG wt Allele, NCI Thesaurus)

The LCK gene is associated with acute lymphoblastic leukemia and severe combined immunodeficiency.

(LCK wt Allele, NCI Thesaurus)

Mutation of the gene is associated with congenital severe combined immunodeficiency.

(ORAI1 wt Allele, NCI Thesaurus)

Mutation of the gene is involved in a form of severe combined immunodeficiency.

(NHEJ1 wt Allele, NCI Thesaurus)

Some humans with SCID (severe combined immunodeficiency disease) also have mutation of their IL-7 receptor gene leading to an absence of T cells and greatly impaired B cell production.

(IL7 Signaling Pathway, NCI Thesaurus/BIOCARTA)

Mutations in the JAK3 gene which abolish the tyrosine-protein kinase activity of its protein product cause autosomal severe combined immunodeficiency disease.

(JAK3 wt Allele, NCI Thesaurus)

Upon re-infusion of the EFS-ADA vector-transduced lymphocytes back into the patient, these cells may both restore ADA activity and prevent severe combined immunodeficiency (SCID) due to ADA deficiency.

(EFS-ADA Lentiviral Vector-transduced CD34-positive Autologous Lymphocytes, NCI Thesaurus)

Eight infants with the disorder, called X-linked severe combined immunodeficiency (X-SCID), received an experimental gene therapy co-developed by National Institutes of Health scientists.

(Gene therapy restores immunity in infants with rare immunodeficiency disease, National Institutes of Health)

ADA catalyzes the hydrolysis of adenosine to inosine; ADA deficiency causes a form of severe combined immunodeficiency (SCID).

(ADA Transduced T Cell, NCI Thesaurus)