Living with Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
A rare inherited immune condition from complete loss of RAG1 or RAG2 genes, with severe repeated infections starting in the newborn period.
Understanding Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Babies have repeated, severe infections from bacteria, viruses, and fungi, with onset in the newborn period. They also have skin rashes, chronic diarrhea, poor weight gain, and fever. Tests show very low T and B cells, normal natural killer (NK) cells, and low or absent antibodies. Some may have high eosinophil counts.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections (bacterial, viral, fungal)
- Long-lasting diarrhea
- Poor weight gain (failure to thrive)
- Fever
- Repeated breathing infections
- Low T 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.
- 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); 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 RAG1 and/or RAG2 genes. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: scid due to complete rag1-2 deficiency; scid due to complete rag1/2 deficiency; scid, ar, t-cell negative, b-cell negative, nk cell-positive; scid, t cell-negative, b cell-negative, nk cell-positive; severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related; severe combined immunodeficiency due to complete rag1-2 deficiency
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 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.
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