Living with Severe combined immunodeficiency due to LAT deficiency
A rare inherited immune condition with low T cells, severe infections in early life, and immune-related blood problems.
Understanding Severe combined immunodeficiency due to LAT deficiency
Babies have severe repeated infections in the first months of life and poor weight gain. They may also have autoimmune blood disorders and overgrowth of immune cells with an enlarged spleen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections and pneumonia
- Poor weight gain (failure to thrive)
- Low T cell count
- Enlarged spleen and swollen lymph nodes
- Autoimmune anemia and low platelets
- Widened lung airways (bronchiectasis)
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 LAT 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
It is caused by changes in the LAT gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: immunodeficiency 52; scid due to lat deficiency; severe combined immunodeficiency due to lat (linker for activation of t cells) deficiency; severe combined immunodeficiency due to linker for activation of t cells 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 due to LAT deficiency.
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