Living with Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
A rare genetic condition with a weak immune system, changes in certain chromosomes, and facial differences.
Understanding Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
People have very low levels of antibodies in the blood, and a lack of memory B cells, although B and T cell counts are normal. The chromosome changes are found near the centromeres of chromosomes 1 and 16 and sometimes 9. It usually starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak immune function (immunodeficiency)
- Low lymphocyte (white blood cell) count
- Delayed development overall
- Large head (macrocephaly)
- Flat nasal bridge
- Too much fluid in the brain (communicating hydrocephalus)
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, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Brain and nervous system specialists (neurologists); 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
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: centromeric instability, immunodeficiency syndrome; icf syndrome; icf1; immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; immunodeficiency syndrome, variable; immunodeficiency-centromeric instability-facial anomalies
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 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency.
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