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Disease Profile

X-linked lymphoproliferative disease due to SH2D1A deficiency

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.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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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)

XLP1; Lymphoproliferative syndrome X-linked 1; Lymphoproliferative syndrome, X-linked, 1;

Categories

Congenital and Genetic Diseases; Immune System Diseases; Rare Cancers

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cellular immunodeficiency
0005374
30%-79% of people have these symptoms
Decreased circulating antibody level
0004313
Hepatomegaly
Enlarged liver
0002240
Lymphadenopathy
Swollen lymph nodes
0002716
Lymphoma
Cancer of lymphatic system
0002665
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
1%-4% of people have these symptoms
Aplastic anemia
0001915
Burkitt lymphoma
0030080
Dysgammaglobulinemia
0002961
Fulminant hepatitis
0004787
Hemophagocytosis
0012156
Meningitis
0001287
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Severe Epstein Barr virus infection
0031693
Vasculitis
Inflammation of blood vessel
0002633
Percent of people who have these symptoms is not available through HPO
Decreased circulating IgG level
0004315
Encephalitis
Brain inflammation
0002383
Hepatic encephalopathy
0002480
Immunodeficiency
Decreased immune function
0002721
Increased circulating IgM level
0003496
Lymphocytosis
High lymphocyte count
0100827
Pancytopenia
Low blood cell count
0001876
Recurrent pharyngitis
Recurrent sore throat
0100776
Reduced natural killer cell activity
0012178
Thrombocytopenia
Low platelet count
0001873
X-linked recessive inheritance
0001419

Organizations

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

    Organizations Providing General Support

      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.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked lymphoproliferative disease due to SH2D1A deficiency. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles