Term Name: severe combined immunodeficiency 104
Synonyms: autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID, autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID, interleukin-7 receptor alpha deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
Definition: A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.
Ontology: Human Disease [DOID:0090014]   ( DOID:0090014 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency