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Disease Profile
Agammaglobulinemia, non-Bruton type
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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Age of onset
All ages
ICD-10
D80.0
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Autosomal agammaglobulinemia
Categories
Congenital and Genetic Diseases; Immune System Diseases
Summary
Agammaglobulinemia, non-Bruton type is a rare form of agammaglobulinemia, which is a primary immunodeficiency characterized by very low levels of immunoglobulins (
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 | ||
Agammaglobulinemia | 0004432 | |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Conjunctivitis |
Pink eye
|
0000509 |
Cough |
Coughing
|
0012735 |
Diarrhea |
Watery stool
|
0002014 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Fever | 0001945 | |
Decreased immune function
|
0002721 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
Sinusitis |
Sinus inflammation
|
0000246 |
Skin rash | 0000988 | |
30%-79% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Osteomyelitis |
Bone infection
|
0002754 |
5%-29% of people have these symptoms | ||
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Cellulitis |
Bacterial infection of skin
Skin infection
[ more ] |
0100658 |
Dehydration | 0001944 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
External ear malformation | 0008572 | |
Hepatitis |
Liver inflammation
|
0012115 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
0001287 | ||
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Sepsis |
Infection in blood stream
|
0100806 |
Verrucae |
Warts
|
0200043 |
Diagnosis
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include X-linked agammaglobulinemia in male patients, myelodysplasia or congenital infections.
Visit the Orphanet disease page for more information.
|
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 Providing General Support
-
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/
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
- The Immune Deficiency Foundation offers an information page on Agammaglobulinemia, non-Bruton type. Please click on the link to access this resource.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- 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
- 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 Agammaglobulinemia, non-Bruton type. Click on the link to view a sample search on this topic.
References
- Autosomal agammaglobulinemia. Orphanet. December 2013; https://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=33110.
- Terry W Chin, MD, PhD. Agammaglobulinemia. Medscape Reference. May 2014; https://emedicine.medscape.com/article/884942-overview.
- Agammaglobulinemia: X-Linked and Autosomal Recessive. Immune Deficiency Foundation. https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessive/. Accessed 4/14/2016.