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Primary Immunodeficiency in Adults

Inborn errors of immunity presenting in adulthood

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Primary Immunodeficiency in Adults?

PID encompasses over 450 monogenic disorders affecting innate or adaptive immunity, classified by IUIS into ten phenotypic categories.

CVID, the most common adult-onset PID, presents with hypogammaglobulinemia, impaired vaccine response, and recurrent sinopulmonary infections.

Diagnosis requires quantitative immunoglobulins, lymphocyte subsets, vaccine responses, and increasingly genetic testing (next-generation sequencing).

Late diagnosis leads to bronchiectasis, autoimmunity (cytopenia, enteropathy), granulomas, and lymphoma; early treatment improves outcomes substantially.

Symptoms

Recurrent sinusitis, otitis, bronchitis, or pneumonia (more than two pneumonias per year)
Severe or unusual infections (pneumocystis, mycobacteria, opportunistic organisms)
Chronic diarrhea or malabsorption from giardiasis or enteropathy
Autoimmune cytopenias (immune thrombocytopenia, autoimmune hemolytic anemia)
Bronchiectasis, granulomatous lung disease, splenomegaly
Family history of unusual infections, autoimmunity, or early death

Risk Factors

Family history of immunodeficiency or consanguinity
Specific genetic mutations (TACI, ICOS, CD19, NFKB2, BTK, etc.)
Female sex slightly increased in CVID; X-linked forms male-predominant
Age 20-45 most common at CVID diagnosis but range is wide
Concurrent autoimmune disease can be the first clue
Selective IgA deficiency may evolve into CVID over time

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Two or more pneumonias or four or more bacterial infections per year
  • Recurrent need for intravenous antibiotics or hospitalization for infection
  • Persistent diarrhea, weight loss, or malabsorption
  • New autoimmune cytopenia or unexplained splenomegaly
  • Bronchiectasis on imaging without clear cause
  • Failure to respond to vaccines or unusually severe vaccine-preventable disease

Treatment Methods

01
Immunoglobulin replacement (IVIG or SCIG) targeting trough IgG above 700-800 mg/dL
02
Aggressive treatment of bacterial infections with prolonged antibiotic courses when needed
03
Prophylactic antibiotics for recurrent sinopulmonary infections in selected patients
04
Treatment of autoimmune complications with steroids, rituximab, or sirolimus
05
Genetic testing to identify specific monogenic forms (e.g., NFKB1, CTLA4, LRBA) guiding targeted therapy
06
Hematopoietic stem cell transplantation for severe combined and selected primary immunodeficiencies

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Dahiliye (İç Hastalıkları) Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.