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Screening for Immunodeficiency in Children

Identification of warning signs of primary immunodeficiency in children and use of laboratory testing to detect humoral, cellular, phagocytic, and complement defects.

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 Screening for Immunodeficiency in Children?

Primary immunodeficiencies are a heterogeneous group of more than 450 inherited disorders affecting one or more components of the immune system; many become symptomatic in the first years of life.

Jeffrey Modell warning signs (such as ≥4 ear infections per year, ≥2 serious sinusitis, ≥2 pneumonia, recurrent abscesses, persistent thrush, failure to thrive) prompt initial evaluation in pediatric patients.

Initial screening includes complete blood count with differential, immunoglobulin levels (IgG, IgA, IgM, IgE), specific antibody response to vaccines, lymphocyte subsets, complement levels (CH50, AH50), and oxidative burst test (DHR) for chronic granulomatous disease.

Symptoms

Recurrent severe bacterial infections (otitis, sinusitis, pneumonia)
Persistent oral or cutaneous candidiasis after 1 year of age
Failure to thrive and chronic diarrhea
Severe, atypical, or opportunistic infections (Pneumocystis, mycobacteria)
Family history of primary immunodeficiency or unexplained infant death
Severe complications after live vaccines (BCG, rotavirus)

Risk Factors

Family history of primary immunodeficiency or consanguinity
Atopic dermatitis with recurrent infections
Autoimmune cytopenias and unusual autoimmunity
Specific syndromes (DiGeorge, Wiskott-Aldrich, ataxia-telangiectasia)
Severe reaction to live vaccine

When to See a Doctor?

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

  • Multiple Jeffrey Modell warning signs
  • Severe or atypical infections in infancy or early childhood
  • Family history of primary immunodeficiency
  • Failure to thrive with recurrent infections — pediatric immunology referral

Treatment Methods

01
Detailed history including infection pattern, age of onset, family history, and vaccination response
02
Initial laboratory screening (complete blood count, immunoglobulins, vaccine antibody response, lymphocyte subsets, complement, oxidative burst)
03
Targeted advanced testing such as flow cytometry, T-cell function tests, and genetic panels
04
Disease-specific treatment including immunoglobulin replacement, antibiotic prophylaxis, hematopoietic stem cell transplantation, or gene therapy
05
Newborn screening with TREC and KREC for severe combined immunodeficiency where available, and long-term multidisciplinary follow-up

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.