Home > Blossary: Medecine: Immunodeficiency and pathophysiology
Medical terms related to inmunodeficiency and pathophysiology

Category: Science

22 Terms

Created by: pmss1990

Number of Blossarys: 1

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Artemis deficiency is included in the most severe phenotype, T-B- SCID and it is inherited as an autosomal recessive trait. The disease is characterized by a profound deficiency of both T cell and B ...

Domain: Health care; Category: Diseases

Defects in the JAK3 gene (Janus kinase 3) are a cause of autosomal recessive T-cell negative/B-cell positive severe combined immunodeficiency (T-B+ SCID), a condition characterized by the absence of ...

Domain: Medical; Category: Illness

Autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. ...

Domain: Medical; Category: Illness

Autosomal recessive disorder. Both parents need to pass the defective gene to their child in order for that child to inherit the deficiency.

Domain: Biology; Category: Biochemistry

A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome.

Domain: Biology; Category: Genetics

A rare immunodeficiency disorder manifested by the partial or complete disappearance of major histocompatibility complex (MHC) proteins from the surface of the cells.

Domain: Medical; Category: Illness

The CD3 complex is a group of cell surface molecules that associates with the T-cell antigen receptor (TCR) and functions in the cell surface expression of TCR and in the signaling transduction ...

Domain: Biology; Category: Cell biology

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