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Disease Profile

Idiopathic CD4 positive T-lymphocytopenia

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

Adult

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ICD-10

D72.8

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)

IMMUNODEFICIENCY 13; IMD13; ICL;

Categories

Congenital and Genetic Diseases; Immune System Diseases

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]

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]

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]

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
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

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]

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]

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]

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.

References

  1. Karin Nielsen-Saines. Idiopathic CD4+ lymphocytopenia. UpToDate. July 31, 2015; https://www.uptodate.com/contents/idiopathic-cd4-lymphocytopenia?source=search_result&search=Idiopathic+CD4%2B+lymphocytopenia&selectedTitle=1~19.
  2. T-Cells. Arizona State University ask a biologist. https://askabiologist.asu.edu/t-cell. Accessed 8/24/2016.
  3. 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. https://www.bloodjournal.org/content/119/6/1399.long?sso-checked=true#ref-1.
  4. 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/.
  5. Luo L, Li T. Idiopathic CD4 lymphocytopenia and opportunistic infection--an update. FEMS Immunol Med Microbiol. Dec 2008; 54(3):283-289. https://femsim.oxfordjournals.org/content/54/3/283.long.
  6. Gholamin, Mehrana; Bazi, Alib; Abbaszadegan, Mohammad Rezac. Idiopathic lymphocytopenia. Current Opinion in Hematology. January 2015; 22(1):46-52. https://www.ncbi.nlm.nih.gov/pubmed/25463685.
  7. OncoLink Team. Interleukin-2 (Proleukin®, IL-2, Aldesleukin). OncoLink. January 4, 2016; https://www.oncolink.org/cancer-treatment/chemotherapy/oncolink-rx/interleukin-2-proleukin-r-il-2-aldesleukin.
  8. Bone marrow transplant. MedlinePlus. 2/12/2016; https://medlineplus.gov/ency/article/003009.htm.

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