Rare Rheumatology News

Disease Profile

ZAP-70 deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

D81.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Zeta-associated-protein 70 deficiency; Severe combined immunodeficiency due to ZAP70 deficiency

Categories

Congenital and Genetic Diseases; Immune System Diseases

Summary

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+ Tcells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

Visit the Orphanet disease page for more resources.

Symptoms

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.

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

Learn more

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.