National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Agammaglobulinemia, non-Bruton type


Other Names:
Autosomal agammaglobulinemia
Categories:
Agammaglobulinemia, non-Bruton type is a rare form of agammaglobulinemia, which is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea.[1][2][3] Agammaglobulinemia, non-Bruton type can be caused by changes (mutations) in many different genes, including IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1, and TCF3. In most cases, it is inherited in an autosomal recessive manner; however, families with autosomal dominant inheritance have been reported.[1] Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.[2][3]
Last updated: 4/14/2016

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
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
Immunodeficiency
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
Arthritis
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
Meningitis 0001287
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Sepsis
Infection in blood stream
0100806
Verrucae
Warts
0200043
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Last updated: 7/1/2020

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 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.

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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Agammaglobulinemia, non-Bruton type. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Agammaglobulinemia, non-Bruton type:
    United States Immunodeficiency Network (USIDENT) Registry
     

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

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.

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.

  1. Autosomal agammaglobulinemia. Orphanet. December 2013; http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=33110.
  2. Terry W Chin, MD, PhD. Agammaglobulinemia. Medscape Reference. May 2014; http://emedicine.medscape.com/article/884942-overview.
  3. Agammaglobulinemia: X-Linked and Autosomal Recessive. Immune Deficiency Foundation. http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessive/. Accessed 4/14/2016.