Combined immunodeficiency with skin granulomas

Title

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

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

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
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

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Last updated: 2/1/2021

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Research Research

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

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.

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References References

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.
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/.
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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