Living with Immunodeficiency 67
An inherited immune condition causing repeated serious infections with certain bacteria, mostly in early childhood.
Understanding Immunodeficiency 67
It does not cause repeated infections by other kinds of germs. Most people have a first bacterial infection before age 2, and infections become less frequent with age. Infections can involve the blood, the covering of the brain and spinal cord, or the joints. Many people don't develop a high fever at first, even with severe infection.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bacterial infections
- Repeated skin infections
- Repeated Staphylococcus infections
- Repeated Streptococcus pneumoniae infections
- Low neutrophil (white blood cell) count
- Weakened immune function
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 IRAK4 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 IRAK4 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency; interleukin-1 receptor-associated kinase 4 deficiency; invasive pneumococcal disease, recurrent isolated, 1; invasive pneumococcal disease, recurrent isolated, type 1; irak-4 - interleukin-1 receptor-associated kinase 4 deficiency; irak4 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 Immunodeficiency 67.
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