Idiopathic CD4 positive T-lymphocytopenia

Title

Other Names:

IMMUNODEFICIENCY 13; IMD13; ICL; IMMUNODEFICIENCY 13; IMD13; ICL; IDIOPATHIC CD4 LYMPHOPENIA; Idiopathic CD4 lymphocytopenia See More

Categories:

Congenital and Genetic Diseases; Immune System Diseases

Summary Summary

Idiopathic CD4 positive T-lymphocytopenia (ICL) is a rare disorder of the immune system. People with ICL have low levels of a type of white blood cell, called a CD4+ T cell. These low levels can not be explained by other causes of immunodeficiency, including HIV infection.^[1] T cells have many jobs in our immune system, such as attacking bacteria and viruses.^[2] CD4 is a protein found on the surface of many different cells within your immune system. It lets the different cells of your immune system work with each other. When CD4+ T cells are decreased, your body becomes more prone to infection.^[1]

Signs and Symptoms of ICL vary. Some people have no symptoms, however most have illnesses suggestive of a lowered immune system, including infections (varicella-zoster virus, human papilloma virus), autoimmune disorders (autoimmune hemolytic anemia, lupus), and certain types of cancer (non-Hodgkin lymphoma).^[1] A few people with ICL are found to carry specific gene mutations; however, for most cases of ICL the underlying cause is not known.^[1]^[3] Currently, there is no cure for ICL, but treatments are available to help manage individual symptoms.^[1]

Last updated: 8/25/2016

Symptoms Symptoms

The signs and symptoms of ICL usually become apparent in adulthood; although the age at time of diagnosis ranges from 1 year of age to 58 years of age. While some individuals may be asymptomatic, most come to medical attention after diagnosis of an infection related to a weakened immune system, called an opportunistic infection.^[4]^[5] These infections are similar to illnesses found in individuals with AIDS and may include:^[4]^[5]

Bacterial: Mycobacterium, Salmonella, Nocardia
Fungal: Candidiasis, Cryptococcus, Histoplasmosis
Viral: Cytomegalovirus, varicella zoster virus, human papillomaviruses
Parasitic: Toxoplasmosis, leishmaniasis

Autoimmune disorders including Sjögren syndrome, sarcoidosis, psoriasis, autoimmune hemolytic anemia, and lupus and malignancies (cancers) including squamous cell carcinoma, and lymphoma may also occur.^[4]

Last updated: 8/25/2016

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 dominant inheritance		0000006
Bronchiolitis obliterans organizing pneumonia		0011945
Immunodeficiency	Decreased immune function	0002721
Lymphopenia	Decreased blood lymphocyte number Low lymphocyte number [ more ]	0001888
Pneumonia		0002090
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent shingles		0032275
Recurrent sinusitis		0011108

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Cause Cause

The cause of ICL is not well understood. Contributing factors may be related to CD4+ T cell development and function, various deficiencies of the immune system, and genetic factors.^[4]^[6]

Last updated: 8/25/2016

Diagnosis Diagnosis

There are no universal diagnostic criteria for ICL; however, it should be suspected in an individual with laboratory findings including CD4+ T cell counts below 300 cells/mm3 or less than 20 percent of total lymphocytes in the absence of other immunodeficiencies, including HIV.^[1]

The following diseases may also cause decreased CD4+ T cell counts and could be considered as an alternative diagnosis: acute or chronic retroviral infections (HIV, human T-lymphotropic virus type 1), sarcoidosis, common variable immunodeficiency, congenital immunodeficiencies, and immunosuppressive states induced by chemotherapy, acute respiratory distress syndrome, or autoimmune disorders.^[1]

Last updated: 8/25/2016

Treatment Treatment

Treatment of ICL mainly focuses on managing associated symptoms. For individuals without symptoms, regular measurement of CD4+ T cell counts and antibiotic use may be suggested. There are no guidelines regarding how frequently monitoring should occur.^[1]

Two different methods to increase CD4+ T cell counts have been used on a few affected individuals with varying levels of success: Interleukin-2 (IL2) and bone marrow transplantation.^[1]^[6] IL2 is a type of protein naturally occurring in the immune system that works to increase the production and function of the immune system.^[7] A bone marrow transplant is a procedure to replace damaged or destroyed bone marrow (soft, fatty tissue inside your bones that produces blood cells) with healthy bone marrow stem cells. Stem cells are immature cells in the bone marrow that give rise to all of your different blood cells.^[8]

Last updated: 8/25/2016

Prognosis Prognosis

The long-term outlook (prognosis) for individuals with ICL varies depending on the extent of immunosuppression and the associated symptoms. Rarely, ICL can be a temporary finding that reverses over time. In most cases the level of CD4+ T cells stabilizes, rather than continuing to decrease.^[1]

Last updated: 8/25/2016

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Idiopathic CD4 positive T-lymphocytopenia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

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.

GARD Answers GARD Answers

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

Karin Nielsen-Saines. Idiopathic CD4+ lymphocytopenia. UpToDate. July 31, 2015; http://www.uptodate.com/contents/idiopathic-cd4-lymphocytopenia?source=search_result&search=Idiopathic+CD4%2B+lymphocytopenia&selectedTitle=1~19.
T-Cells. Arizona State University ask a biologist. https://askabiologist.asu.edu/t-cell. Accessed 8/24/2016.
Magdalena M. Gorska, Rafeul Alam. A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. blood. 2012; 119:1399-1406. http://www.bloodjournal.org/content/119/6/1399.long?sso-checked=true#ref-1.
Dina S. Ahmad, Mohammad Esmadi, William C. Steinmann. Idiopathic CD4 Lymphocytopenia: Spectrum of opportunistic infections, malignancies, and autoimmune diseases. Avicenna J Med. April-June 2013; 3(2):37-47. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734630/.
Luo L, Li T. Idiopathic CD4 lymphocytopenia and opportunistic infection--an update. FEMS Immunol Med Microbiol. Dec 2008; 54(3):283-289. http://femsim.oxfordjournals.org/content/54/3/283.long.
Gholamin, Mehrana; Bazi, Alib; Abbaszadegan, Mohammad Rezac. Idiopathic lymphocytopenia. Current Opinion in Hematology. January 2015; 22(1):46-52. http://www.ncbi.nlm.nih.gov/pubmed/25463685.
OncoLink Team. Interleukin-2 (Proleukin®, IL-2, Aldesleukin). OncoLink. January 4, 2016; http://www.oncolink.org/cancer-treatment/chemotherapy/oncolink-rx/interleukin-2-proleukin-r-il-2-aldesleukin.
Bone marrow transplant. MedlinePlus. 2/12/2016; https://medlineplus.gov/ency/article/003009.htm.