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Pediatric Primary Immunodeficiency

Inherited disorders of innate or adaptive immunity

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 Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Pediatric Primary Immunodeficiency?

Primary immunodeficiencies encompass over 450 distinct inherited disorders affecting innate and adaptive immunity.

Major categories include severe combined immunodeficiency (SCID), antibody deficiencies, complement deficiencies, phagocyte disorders, and disorders of immune dysregulation.

Severe combined immunodeficiency (SCID) is a pediatric emergency requiring bone marrow transplantation in the first months of life.

Newborn screening for SCID using TREC analysis is now standard in many countries.

Recurrent severe infections, opportunistic pathogens, autoimmunity, and lymphoproliferation are warning signs.

Modern diagnostics include flow cytometry, genetic panels, and whole-exome sequencing.

Symptoms

Recurrent bacterial infections (pneumonia, otitis media, sinusitis)
Opportunistic infections (Pneumocystis jirovecii, severe candidiasis, viral)
Failure to thrive, chronic diarrhea, growth retardation
Persistent eczema, autoimmune cytopenias
Lymphadenopathy, hepatosplenomegaly, granulomas
Family history of early infant deaths from infection
Severe reaction or death after live virus vaccination

Risk Factors

Consanguineous parents
Family history of recurrent infections or PID
Multiple infant deaths in family
Specific ethnic groups for autosomal recessive forms
Male sex for X-linked PIDs (X-linked agammaglobulinemia, X-SCID, Wiskott-Aldrich)
Maternal carrier identification in X-linked disorders

When to See a Doctor?

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

  • Eight or more ear infections in one year, or two or more pneumonias warrant immune evaluation.
  • Recurrent deep skin or organ abscesses in childhood are red flags.
  • Persistent thrush after one year of age or recurrent fungal infections require investigation.
  • Failure to thrive with chronic diarrhea in infancy is a SCID warning sign.
  • Family history of unexplained infant deaths or known PID requires immediate genetic consultation.

Treatment Methods

01
Immunoglobulin replacement therapy (intravenous or subcutaneous) for antibody deficiencies.
02
Hematopoietic stem cell transplantation for SCID, severe combined disorders, Wiskott-Aldrich, chronic granulomatous disease.
03
Gene therapy for select disorders (X-SCID, ADA-SCID, X-CGD).
04
Antibiotic prophylaxis (Pneumocystis prevention with TMP-SMX, fungal prophylaxis).
05
Avoidance of live attenuated vaccines in severely affected patients.
06
Targeted biologic therapy for immune dysregulation disorders (JAK inhibitors, abatacept).
07
Genetic counseling and family screening.
08
Multidisciplinary follow-up: immunology, infectious disease, transplant team.

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve 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.