Phenotype Library | Search Phenotypes

Immunodeficiency 104 (MONDO:0012163)

A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

Overview

Category

immune system disorder

Ontology ID

MONDO:0012163

Internal:13226

Synonyms

IMD104

autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID

severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive

severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive

SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive

Mapped terms

DOID:0090014

GARD:0018293

MEDGEN:1801019

MESH:C563822

OMIM:608971

UMLS:C5676890

Child terms

Unknown children.

Results

Cookie consent