Living with Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
An inherited immune condition in which a missing enzyme keeps infection-fighting white blood cells from working, leading to repeated infections.
Understanding Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
It impairs the development and function of lymphocytes, white blood cells that fight infection. People often get pneumonia, chronic diarrhea, and widespread skin rashes, and they may grow slowly. About 80 percent also have SCID, with health problems in the first 6 months of life. In others, signs start between ages 1 and 10 or in adulthood and are milder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated pneumonia
- Chronic diarrhea
- Repeated ear and sinus infections
- Poor weight gain (failure to thrive)
- Skin inflammation
- Low T cell and B 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 ADA 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
It is caused by changes in the ADA gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ada; ada deficiency; ada-scid; adenosine deaminase deficiency; adenosine deaminase deficiency, partial, autosomal recessive, somatic mosaicism; adenosine deaminase deficient severe combined immunodeficiency
Patient organizations
- Jeffrey Modell FoundationSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
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