Living with Combined immunodeficiency due to GINS1 deficiency
A rare inherited immune condition with slow growth before and after birth, low white blood cells and repeated infections.
Understanding Combined immunodeficiency due to GINS1 deficiency
A problem with copying DNA stops some immune cells from maturing in the bone marrow, especially natural killer (NK) cells. People have slow growth before and after birth, low neutrophils (a type of white blood cell), and repeated viral and bacterial infections. Eczema and mild facial differences can also occur. Symptoms are seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before and after birth
- Short stature
- Repeated infections
- Low neutrophil count and no natural killer cells
- Eczema
- Small head size (microcephaly)
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 GINS1 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 GINS1 gene are listed. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cid due to gins1 deficiency; combined immunodeficiency due to gins complex subunit 1 deficiency; combined immunodeficiency due to gins1 (gins complex subunit 1) deficiency; combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia; combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia; combined immunodeficiency with intrauterine growth retardation, nk (natural killer) cell deficiency, neutropenia
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 Combined immunodeficiency due to GINS1 deficiency.
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