Living with Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
An inherited immune condition that makes people prone to infections from mycobacteria and some other germs.
Understanding Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
People have weakened immunity and repeat infections from a family of bacteria called mycobacteria. They may also have repeat yeast (candida) infections and swollen, infected lymph nodes. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated mycobacterial infections
- Weakened immune function
- Infection spread through the body (disseminated)
- Inflamed lymph nodes
- Repeated yeast (candida) infections
- Reaction to BCG vaccine (BCGosis)
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
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in IL12RB1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation
- 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
Changes in the IL12RB1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in il12rb1; il12rb1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; il12rb1 deficiency; immunodeficiency 30; immunodeficiency type 30; mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- 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 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency.
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