What are the other Names for this Condition? (Also known as/Synonyms)

• Severe Combined Immunodeficiency due to ZAP70 Deficiency
• Zeta-Associated-Protein 70 Deficiency Disorder
• ZAP70-Related Severe Combined Immunodeficiency

What is ZAP-70 Deficiency Disorder? (Definition/Background Information)

• ZAP-70 Deficiency Disorder or Combined Immunodeficiency due to ZAP-70 Deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction

(Source: ZAP-70 Deficiency; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets ZAP-70 Deficiency Disorder? (Age and Sex Distribution)

• ZAP-70 Deficiency Disorder is a very rare disorder that is typically diagnosed in infants and very young children
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for ZAP-70 Deficiency Disorder? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for ZAP-70 Deficiency Disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of ZAP-70 Deficiency Disorder? (Etiology)

The exact cause of ZAP-70 Deficiency Disorder is currently unknown.

What are the Signs and Symptoms of ZAP-70 Deficiency Disorder?

ZAP-70 Deficiency Disorder results in severe immunodeficiency resulting in several associated conditions and signs and symptoms including:

• Skin rashes
• Chronic and persistent diarrhea
• Pneumonia
• Recurrent infections involving the skin and lungs

How is ZAP-70 Deficiency Disorder Diagnosed?

ZAP-70 Deficiency Disorder is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of ZAP-70 Deficiency Disorder?

The complications of ZAP-70 Deficiency Disorder may include:

• Infections that do not resolve
• Growth deficiency
• Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is ZAP-70 Deficiency Disorder Treated?

There is no cure for ZAP-70 Deficiency Disorder. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can ZAP-70 Deficiency Disorder be Prevented?

• Currently, ZAP-70 Deficiency Disorder may not be preventable, since the cause of the condition is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are highly recommended

What is the Prognosis of ZAP-70 Deficiency Disorder? (Outcomes/Resolutions)

• The prognosis of ZAP-70 Deficiency Disorder is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for ZAP-70 Deficiency Disorder:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/