Living with Immunodeficiency 33
An inherited immune condition caused by changes in the IKBKG gene, with repeated infections and tooth differences.
Understanding Immunodeficiency 33
People have weakened immune function and repeated bacterial infections. Tooth differences such as cone-shaped teeth or missing teeth can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakened immune function
- Repeated bacterial infections
- Pneumocystis jirovecii pneumonia
- Spread-out infection with nontuberculous mycobacteria
- Cone-shaped teeth
- One to six teeth that never form (hypodontia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
The disease is caused by a change (mutation) in the IKBKG gene. It is inherited in an X-linked pattern, meaning the gene is on the X chromosome.
Also known as: ikbkg invasive pneumococcal disease, recurrent isolated; ikbkg x-linked mendelian susceptibility to mycobacterial diseases; imd33; immunodeficiency 33, mycobacteriosis, x-linked; immunodeficiency 33, x-linked recessive; immunodeficiency type 33
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Immunodeficiency 33.
Explore research for Immunodeficiency 33
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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