Immunodeficiency with thymoma
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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
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.
Other Names (AKA)
Thymoma-immunodeficiency syndrome; Good syndrome
Immune System Diseases
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||
|80%-99% of people have these symptoms|
Swollen lymph nodes in center of chest
|30%-79% of people have these symptoms|
Permanent enlargement of the airways of the lungs
[ more ]
Inability to produce voice sounds
Drooping upper eyelid
|Recurrent skin infections||
Skin infections, recurrent
|Recurrent urinary tract infections||
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|5%-29% of people have these symptoms|
Low number of red blood cells or hemoglobin
|Aplasia/Hypoplasia of the thymus||
[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
Low platelet count
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.
Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Rock Bottom, Trerieve
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
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.
- 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.
- 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 Immunodeficiency with thymoma. Click on the link to view a sample search on this topic.
- Other Important Primary Immunodeficiency Diseases. Immune Deficiency Foundation. 2011; https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/other-antibody-deficiency-disorders/. Accessed 12/6/2011.
- Tarr PE, Sneller MC, Mechanic LJ, Economides A, Eger CM, Strober W, Cunningham-Rundles C, Lucey DR. Infections in patients with immunodeficiency with thymoma (Good syndrome). Report of 5 cases and review of the literature. Medicine (Baltimore). 2001; https://www.ncbi.nlm.nih.gov/pubmed/11307588. Accessed 12/6/2011.
- P Kelleher, SA Misbah. What is Good’s syndrome? Immunological abnormalities in patients with thymoma. J Clin Pathol . 2003; https://jcp.bmj.com/content/56/1/12.full. Accessed 12/6/2011.
- Kelesidis T, Yang O. Good's syndrome remains a mystery after 55 years: A systematic review of the scientific evidence. Clin Immunol. June 2010; 135(3):347-363. https://www.ncbi.nlm.nih.gov/pubmed/20149753.