Allergy Asthma Immunol Res.  2013 Mar;5(2):88-95. 10.4168/aair.2013.5.2.88.

Clinical Predictors of Primary Immunodeficiency Diseases in Children

• Reda SM
• El-Ghoneimy DH
• Afifi HM

• KMID: 2260343
• DOI: http://doi.org/10.4168/aair.2013.5.2.88

Abstract

PURPOSE
To promote awareness of primary immunodeficiency (PID), the "10 warning signs" of PID and an immunodeficiency-related (IDR) score were developed. However, their efficiency in identifying PID cases was not sufficiently evaluated in clinical practice. The objective of this study was to test the validity of the 10 warning signs and IDR score in identifying PID among children with recurrent infections at a tertiary pediatric hospital in Egypt.
METHODS
A retrospective analysis of the medical records of 204 patients was performed. Of these patients, 92 had defined PID diseases and 112 were considered non-PID cases because investigations were inconclusive.
RESULTS
Demonstrating two warning signs and an IDR score of 6 led to sensitivities of 94 and 66%, respectively, and specificities of 64 and 75%, respectively, in identifying PID cases. The strongest predictor of PID was family history that, if combined with the need for intravenous antibiotics, recurrent deep-seated infections, and failure to thrive, could identify 81% of PID patients. A family history of PID, sibling death, and/or parental consanguinity would predict 92% of combined immunodeficiencies, 92% of phagocyte defects, 87% of well-identified immunodeficiency syndromes, and 84% of antibody deficiency if the need for intravenous antibiotics is considered in the latter.
CONCLUSIONS
The 10 warning signs and IDR score do not aid in an early diagnosis of severe PID. Educational campaigns should target pediatricians aiming to increase PID awareness and to address family history of PID, parental consanguinity, and previous sibling death as key predictors of PID in communities with a high prevalence of consanguineous marriages.

Keyword

Children; Egypt; immunodeficiency disease-related score; primary immunodeficiency diseases; recurrent infection; ten warning signs

MeSH Terms

Anti-Bacterial Agents
Child
Consanguinity
Early Diagnosis
Egypt
Failure to Thrive
Hospitals, Pediatric
Humans
Marriage
Medical Records
Parents
Phagocytes
Prevalence
Retrospective Studies
Siblings
Anti-Bacterial Agents

Figure

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  Fig. 1 Immunodeficiency disease-related (IDR) scores among studied groups.

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  Fig. 2 The most significant warning signs of primary immunodeficiencies in studied cases. *Neonatal screening is indicated for the timely diagnosis of severe PID diseases, such as severe combined immunodeficiency. PID, primary immunodeficiency.

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