Living with X-linked severe combined immunodeficiency
An inherited immune system condition, almost always in males, that leads to repeated and lasting infections starting in infancy.
Understanding X-linked severe combined immunodeficiency
Children with X-linked SCID lack the immune cells needed to fight certain bacteria, viruses and fungi, so infections keep coming back. Without treatment, infants can have poor growth, chronic diarrhea, thrush (a fungal infection), and skin rashes. Newborn screening can detect it soon after birth, which allows prompt treatment.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bacterial infections
- Pneumonia and cough
- Diarrhea
- Repeated fevers
- Skin rash
- Low T cell (immune cell) counts
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 IL2RG 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 Jeffrey Modell Foundation and other patient organizations
- 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 IL2RG gene cause this condition. It is inherited in an X-linked way, meaning the gene is on the X chromosome.
Also known as: immunodeficiency 4; scid-x1; scid, x-linked; scidx1; severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative; severe combined immunodeficiency, x-linked, x-linked recessive
Patient organizations
- Jeffrey Modell FoundationX-linked severe combined immunodeficiency · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked severe combined immunodeficiency.
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