U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

MedGen UID:
1842819
Concept ID:
C5679578
Disease or Syndrome
Synonym: T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0015703
Orphanet: ORPHA169160

Definition

A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVT-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...