Approach to a child with primary immunodeficiency

Abstract

Primary immunodeficiencies are clinically and epidemio­logically important, despite their low prevalence, due to the associated risk of high morbidity and mortality. Most commonly encountered primary immunodeficiencies in­clude humoral immune system deficiencies, cellular im­mune system defects, combined immunodeficiencies, phagocyte system defects, complement system defects. Classical clinical findings of immunodeficiencies include recurrent, severe infections which do not respond to treat­ment or which progress with complications as well as ten­dency to develop infections with low virulence microor­ganisms. Moreover, they may present with autoimmunity, autoinflammatory or hemaphagocytic syndromes. Con­genital diseases usually start in early childhood and lead to morbidity and mortality. Therefore, early diagnosis may be life saving and allow increasing quality of life, genetic counseling or prenatal diagnosis. Considering primary im­munodeficiencies more frequently in differential diagnosis and early immunological evaluation would lead to early diagnosis of these patients and allow them to reach early treatment or preventive measures.

Keywords

• Primary immunodeficiencies, clinical evalu­ation, children

Primer immün yetmezlikli çocuğa yaklaşım

Abstract

Primer immün yetmezlikler seyrek görülen bir hastalık grubu olmakla birlikte ciddi morbidite ve mortaliteye yol açması nedeni ile klinik ve epidemiyolojik açıdan önem taşır. En sık karşılaşılan primer immün yetmezlikler hü­möral immün sistem kusurları, hücresel immün sistem kusurları, kombine immün yetmezlikler, fagositer sistem kusurları ve kompleman sistemi kusurlarıdır. İmmün yet­mezliklerin klasik klinik bulguları arasında yineleyen, ağır ve tedaviye iyi yanıt vermeyen ya da komplikasyonların ortaya çıktığı enfeksiyon öyküsü yanında virulansı düşük mikroorganizmalarla enfeksiyonlara duyarlılık yer alır. Ayrıca, otoimmünite, otoinflamatuvar veya hemofago­sitoz sendromları ile ortaya çıkabildiği de gösterilmiştir. Doğumsal hastalıklar genellikle erken çocukluk dönemin­de başlayıp, morbidite ve mortaliteye yol açmaktadır. Bu nedenle erken tanı yaşam kurtarıcı olabileceği gibi, uzun dönemde yaşam kalitesinin artırılmasını, genetik danış­ma ya da prenatal tanıyı olanaklı kılmaktadır. Primer im­mün yetmezlik hastalıklarının ayırıcı tanıda daha sıklıkla düşünülmesi ve immünolojik değerlendirmenin öncelikli yapılması, bu hastaların erken dönemde tanı almasını böylece de erken tedavi ya da koruyucu önlemlere ulaşı­mını sağlamaktadır.

Keywords

• Primer immünyetmezlikler, klinik de­ğerlendirme, çocuk

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