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Combined immunodeficiency with skin granulomas


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Other Names:
CID due to RAG 1/2 deficiency; Combined immunodeficiency due to RAG 1/2 deficiency; Combined immunodeficiency with granulomatosis; CID due to RAG 1/2 deficiency; Combined immunodeficiency due to RAG 1/2 deficiency; Combined immunodeficiency with granulomatosis; Combined cellular and humoral immune defects with granulomas See More
Categories:
Congenital and Genetic Diseases; Immune System Diseases; Skin Diseases

Summary Summary


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Combined immunodeficiency with skin granulomas is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs.  There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and  T lymphocytes (a type of white blood cell, that protect the body from infection attacking the infected cells directly), hypogammaglobulinemia (reduction in all types of gamma globulins, including antibodies that help fight infection.) and defective autoinmunity where the immune system attacks the body itself.[1] Some people may develop associated auto-immune diseases such as myasthenia gravis, vitiligo, low blood red and white cells, psoriasis, and Guillain–Barré syndrome.[2] 

It is caused by mutations in the RAG1 and/or RAG2 genes.[2] These genes provide instructions for making a member of a group of proteins called the RAG complex, which is involved in the process, known as V(D)J recombination, needed for maintaining the diversity of the B and T cells so they can be able to recognize diverse foreign agents allowing the body to fight infections. The mutations can impair RAG complex formation and function, resulting in an impaired B and T cells' function. Depending on the residual activity of the RAG proteins the disease can be more or less severe. In less severe cases symptoms are milder and may appear later in life.[1][2][3] Treatment is with bone marrow transplantation.[3]


Last updated: 7/12/2018

Symptoms Symptoms


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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.

Showing of 7 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
B lymphocytopenia
Low B cell count
0010976
Combined immunodeficiency 0005387
Decreased circulating IgG level 0004315
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
T lymphocytopenia
Low T cell count
Reduced number of T cells
[ more ]
0005403
Showing of 7 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
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Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Combined immunodeficiency with skin granulomas. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Combined immunodeficiency with skin granulomas:
    European Society for Immunodeficiencies (ESID) Registry
    United States Immunodeficiency Network (USIDENT) Registry
     

Learn More Learn More


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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

  • 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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Ravin SSD, Cowen EW, Zarember KA et al. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood. 2010; 116:1263:1271. http://www.bloodjournal.org/content/116/8/1263.long?sso-checked=true.
  2. Notarangelo LD, Kim M-S, Walter JE & Lee YN. Human RAG mutations: biochemistry and clinical implications. Nature reviews Immunology. 2016; 16(4):234-246. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757527/.
  3. Abolhassani H, Wang N, Aghamohammadi A, et al. A Hypomorphic RAG1 Mutation Resulting in a Phenotype Resembling Common Variable Immunodeficiency. The Journal of allergy and clinical immunology. 2014; 134(6):1375-1380. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4261008/.
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