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|
Short and broad skull
|Chronic otitis media||
Chronic infections of the middle ear
Decreased immune function
Decreased blood lymphocyte number
Low lymphocyte number[ more ]
|30%-79% of people have these symptoms|
Permanent enlargement of the airways of the lungs
|Elevated hepatic transaminase||
High liver enzymes
Swollen lymph nodes
Increased spleen size
|5%-29% of people have these symptoms|
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
|Posterior pharyngeal cleft||0006783|
|Restrictive ventilatory defect||0002091|
|Percent of people who have these symptoms is not available through HPO|
Low B cell count
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections[ more ]
|Recurrent otitis media||
Recurrent middle ear infection
Learn more orphan products.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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 diagnosis include other causes of hypogammaglobulinemia including loss of gammaglobulins via the intestine or urine, hematological malignancies, viral infections or drug-induced loss of B-cell function.
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.
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.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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. Submit a new question
I have CVID and I am currently expecting my second child. I breastfed my first for 6 months, however, this was before my diagnosis. Is it worth me feeding a second time? Will the Ig from my replacement therapy be passed on to my child in my milk, or would they get more nutrition with formula milk? See answer
My daughter was diagnosed late at 38 and she is now almost 45. She now only has a little energy for a few hours a day. What is the life expectancy? See answer
Does CVID affect pregnancy? Is there any risk in conceiving, or carrying a baby to full term? See answer
Do you have any information about CVID? How does one contract this disease? Is there any cure or treatment for this disease? My husband has been told he has this disease and has been getting IVIG infusions, but he seems to be getting sicker every time he goes. The last two times he had to have 2 units of red blood. Is this normal? See answer