Living with Specific granule deficiency
A rare genetic condition of infection-fighting white blood cells that leads to repeated infections from infancy.
Understanding Specific granule deficiency
Infants have more infections than usual, especially of the skin, ears, lungs and lymph nodes. Under the microscope, neutrophils lack their specific granules and have two-lobed nuclei. Bone marrow tests show too many cells overall but few neutrophils. Some people also have mild to moderate developmental delay, mild facial differences, and differences of the bones, teeth and nails.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Repeated infections from infancy
- Skin, ear, lung and lymph node infections
- Neutrophils missing granules
- Mild to moderate developmental delay
- Mild facial differences
- Bone, teeth or nail differences
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
GARD says changes in genes cause this condition, but it doesn't list a gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: neutrophil lactoferrin deficiency; neutrophil-specific granule deficiency; recurrent infection due to specific granule deficiency; sgd - specific granule 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 Specific granule deficiency.
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