Living with Deficiency in anterior pituitary function - variable immunodeficiency syndrome
A rare genetic condition with childhood immune problems and, later, low pituitary hormones such as ACTH.
Understanding Deficiency in anterior pituitary function - variable immunodeficiency syndrome
In childhood, people have low antibody levels and repeated or severe infections of the sinuses and lungs (common variable immunodeficiency). Many years later, they may have low ACTH, a pituitary hormone that signals the adrenal glands. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated sinus, ear, and lung infections
- Recurrent pneumonia or bronchitis
- Low ACTH and cortisol (adrenal insufficiency)
- Fatigue
- Low blood pressure
- Hair loss and poor nail formation
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in NFKB2 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
Pituitary Network Association and 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); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Pituitary Network Association, 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 Pituitary Network Association 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 NFKB2 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: david (deficiency in anterior pituitary function, variable immunodeficiency) syndrome; david syndrome; deficiency in anterior pituitary function-variable immunodeficiency syndrome; deficiency in anterior pituitary function, variable immunodeficiency syndrome
Patient organizations
- Pituitary Network AssociationPituitary deficiencies · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
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Perspectives from people navigating life with Deficiency in anterior pituitary function - variable immunodeficiency syndrome.
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