National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

ZAP-70 deficiency


Other Names:
Zeta-associated-protein 70 deficiency; Severe combined immunodeficiency due to ZAP70 deficiency
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 911

Definition
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.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Decreased lymphocyte proliferation in response to mitogen 0031381
Recurrent opportunistic infections 0005390
Recurrent viral infections 0004429
30%-79% of people have these symptoms
Absence of CD8-positive T cells 0005422
Chronic diarrhea 0002028
Chronic oral candidiasis
Chronic oral thrush
0009098
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Pneumonia 0002090
Recurrent infection of the gastrointestinal tract
Recurrent gastrointestinal infections
0004798
Recurrent upper and lower respiratory tract infections 0200117
5%-29% of people have these symptoms
Colitis 0002583
Eosinophilia
High blood eosinophil count
0001880
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Lymphadenitis
Inflammation of the lymph nodes
0002840
Lymphadenopathy
Swollen lymph nodes
0002716
Lymphocytosis
High lymphocyte count
0100827
Nephrotic syndrome 0000100
Recurrent bacterial skin infections 0005406
Recurrent mycobacterial infections 0011274
Skin rash 0000988
Stomatitis
Inflammation of the mouth
0010280
Stroke 0001297
1%-4% of people have these symptoms
Autoimmune hemolytic anemia 0001890
Autoimmune thrombocytopenia 0001973
Lymphoma
Cancer of lymphatic system
0002665
Lymphoproliferative disorder 0005523
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss ZAP-70 deficiency. Click on the link to view a sample search on this topic.

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