T-B+ severe combined immunodeficiency due to CD45 deficiency

MedGen UID:: 1842877
•Concept ID:: C5679579
•: Disease or Syndrome

Synonyms:	CD45 deficiency; T-B+ SCID due to CD45 deficiency
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). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0015702
Orphanet:	ORPHA169157

Definition

A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. [from ORDO]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVT-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ severe combined immunodeficiency
- T-B+ severe combined immunodeficiency due to CD45 deficiency

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T-B+ severe combined immunodeficiency due to CD45 deficiency

Definition

Term Hierarchy

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