ZAP-70 Deficiency

(See also Overview of Immunodeficiency Disorders Overview of Immunodeficiency Disorders Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more .)

T cells T cells One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more are white blood cells that identify and attack foreign cells and substances. Deficiency or malfunction of T cells increases the risk of serious infection. ZAP-70 deficiency is a primary immunodeficiency disorder Primary immunodeficiency Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more . Its inheritance is autosomal recessive Inheritance Patterns Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more .

ZAP-70 deficiency causes recurrent infections similar to those in severe combined immunodeficiency Severe Combined Immunodeficiency (SCID) Severe combined immunodeficiency is a primary immunodeficiency disorder resulting in low levels of antibodies (immunoglobulins) and low or no T cells (lymphocytes). Most infants with severe... read more (SCID) in infants and young children. However, the deficiency may not be diagnosed until children are several years old.

Blood tests are done to measure the number of B cells B cells One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more and T cells T cells One of the body's lines of defense ( immune system) involves white blood cells (leukocytes) that travel through the bloodstream and into tissues, searching for and attacking microorganisms and... read more and immunoglobulin levels and to evaluate how well B cells and T cells are functioning.

The disorder is fatal unless the child receives a stem cell transplant Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more .