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

Severe combined immunodeficiency due to complete RAG1/2 deficiency


Other Names:
SCID, AR, T-cell negative, B-cell negative, NK cell-positive; SCID due to complete RAG1/2 deficiency; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 331206

Definition
Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2017

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
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HPO ID
80%-99% of people have these symptoms
Abnormal B cell count 0010975
Abnormal T cell count 0011839
Decreased circulating IgA level 0002720
Decreased circulating IgG level 0004315
Decreased circulating total IgM 0002850
30%-79% of people have these symptoms
Decreased lymphocyte proliferation in response to mitogen 0031381
Decreased proportion of CD3-positive T cells 0045080
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Fever 0001945
Protracted diarrhea 0004385
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] 		0002718
Recurrent enteroviral infections 0002743
Recurrent fungal infections 0002841
Recurrent upper and lower respiratory tract infections 0200117
Reduced antigen-specific T cell proliferation 0031402
5%-29% of people have these symptoms
Abnormal natural killer cell count 0040089
Autoimmune hemolytic anemia 0001890
Elevated hepatic transaminase
High liver enzymes
0002910
Eosinophilia
High blood eosinophil count
0001880
Hepatomegaly
Enlarged liver
0002240
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Lymphadenitis
Inflammation of the lymph nodes
0002840
Pallor 0000980
Skin rash 0000988
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Arthritis
Joint inflammation
0001369
Autosomal recessive inheritance 0000007
B lymphocytopenia
Low B cell count
0010976
Conjunctivitis
Pink eye
0000509
Decrease in T cell count
Low T cell count
Reduced number of T cells
[ more ] 		0005403
Diarrhea
Watery stool
0002014
Failure to thrive secondary to recurrent infections
Faltering weight secondary to recurrent infections
Weight faltering secondary to recurrent infections
[ more ] 		0008866
Mastoiditis 0000265
Meningitis 0001287
Otitis media
Middle ear infection
0000388
Panhypogammaglobulinemia 0003139
Pneumonia 0002090
Purulent rhinitis 0040334
Recurrent opportunistic infections 0005390
Severe combined immunodeficiency 0004430
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

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

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Severe combined immunodeficiency due to complete RAG1/2 deficiency. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • 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.

Selected Full-Text Journal Articles

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