Living with T-B+ severe combined immunodeficiency due to JAK3 deficiency
An inherited immune condition in which the body lacks immune cells to fight germs, causing repeated infections in infancy.
Understanding T-B+ severe combined immunodeficiency due to JAK3 deficiency
People lack the immune cells needed to fight certain bacteria, viruses, and fungi. They are prone to repeated, lasting, and sometimes very serious infections, including opportunistic ones that don't usually make healthy people ill. Infants often have chronic diarrhea, oral thrush, pneumonia, and skin rashes. Ongoing illness slows growth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections
- Chronic diarrhea
- Oral thrush (mouth fungal infection)
- Lung infections
- Skin rashes
- Slow growth
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 JAK3 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 JAK3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: scid, autosomal recessive, t-negative/b-positive type; scid, t cell-negative, b cell-positive, nk cell-negative; severe combined immunodeficiency t-cell negative b-cell positive due to janus kinase-3 deficiency; t-b+ scid due to jak3 deficiency; t-cell negative b-cell positive severe combined immunodeficiency due to jak3 deficiency
Patient organizations
- Jeffrey Modell FoundationT-B+ severe combined immunodeficiency due to JAK3 deficiency · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with T-B+ severe combined immunodeficiency due to JAK3 deficiency.
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