Living with Primary immunodeficiency syndrome due to p14 deficiency
A rare inherited condition with short stature, lighter hair and skin color, coarse facial features and frequent lung infections.
Understanding Primary immunodeficiency syndrome due to p14 deficiency
People have short stature, lighter hair and skin pigment (hypopigmentation) and coarse facial features. They also have frequent chest infections with the bacterium Streptococcus pneumoniae. It starts around birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Short stature
- Lighter hair and skin color
- Coarse facial features
- Repeated lung infections
- Weakened immune system
- Low neutrophil (white blood cell) count
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 LAMTOR2 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
Changes in the LAMTOR2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: primary immunodeficiency syndrome due to lamtor2 deficiency; primary immunodeficiency syndrome with short stature
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 Primary immunodeficiency syndrome due to p14 deficiency.
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