Living with Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
A rare inherited immune condition with repeated viral infections.
Understanding Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
People have repeated respiratory and skin infections caused by viruses such as Epstein-Barr virus, herpes simplex virus, and human papillomavirus. Other parts of the immune system tested normal. Onset ranges from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated viral infections of the upper airways
- Repeated ear infections
- Repeated sinus infections
- Repeated oral herpes
- Severe chickenpox or shingles (varicella zoster)
- Wheezing
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 FCGR3A 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
It is caused by changes in the FCGR3A gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity; cd16 deficiency; immunodeficiency 20; immunodeficiency type 20
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 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity.
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