Çocuklarda İmmün Yetmezliklere Yaklaşım

Yıl 2014, , 62 - 65, 01.04.2014

Murat Sütçü Ayper Somer

https://doi.org/10.5222/j.child.2014.062

Öz

Primer immün yetmezlikler fırsatçı enfeksiyonlar, malig- nite ve otoimmüniteye eğilim yaratan genetik geçişli has- talıklardır. Bu hastalıkların çoğu otozomal resesif geçişli olup, akraba evliliğnin sık olduğu bölgelerde daha fazla görülmektedir. Çoğu immün yetmezlikler sürecin başlan- gıcından itibaren dikkatli bir öykü ve fizik muayene ile tanı konulabilir. Akılcı laboratuvar incelemeleri ayırıcı tanıda yardımcı bilgiler sağlar. Primer immün yetmezlik- lerde ciddi enfeksiyonlar ortaya çıkmadan önce tanı konulması, prognoz ve aileye zamanında genetik danışma verilebilmesi için önemlidir. Aile öyküsünün ve klinik özelliklerin iyi değerlendirilmesi hastalığın erken tanısı için çok önemlidir

Anahtar Kelimeler

İmmün yetmezlik, enfeksiyon, çocuk

Approaches to Diagnosis of Immunodeficiency Diseases in Children

Öz

Primary immunodeficiency disorders PIDs are inherited diseases of the immune system resulting in increased sus- ceptibility to unusual infections and predisposition to auto- immünity and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more com- mon in areas with high rates of consanguineous marriages. Most immunodeficiency disorders can be diagnosed readily by employing a methodical process starting with careful analysis of the child’s presenting history and physical exa- mination. Rational laboratory examinations provides ancil- lary information for differential diagnosis. Early identifica- tion of PIDs beforeemergence of serious infections is important for prognosis, and providing timely genetic counselling to the family. Proper evaluation of family his- tory and clinical presentation of the patient are extremely important for the early diagnosis of this disorder

Anahtar Kelimeler

Immune deficiency, infection, child

Kaynakça

• Geha rS, notarangelo lD, Casanova Jl, et al. Primary immunodeficiency diseases: an update from the International Union of Imunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007;120:776-94. http://dx.doi.org/10.1016/j.jaci.2007.08.053
• Cantoni n, recher M. Primary and secondary immu- nodeficiencies. Ther Umsch 2014;71:31-43. http://dx.doi.org/10.1024/0040-5930/a000479
• Tosi FM. Normal and Impaired Immunologic Responses to Infection. In Feigin RD, Cherry JD, Demmler GJ, Kaplan SL, eds. Textbook of Pediatric Infectious Diseases, 7th Edition, Philadelphia, Saunders. 2014: 55-106.
• De Vries E. Clinical Working Party of the European Society for Immunodeficiencies Patient-center scree- ning for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-Immunologists. Clin Exp Immunol 2006: 204-14. http://dx.doi.org/10.1111/j.1365-2249.2006.03138.x
• norouzi S, Aghamohammadi A, Mamishi S, rosenzweig SD, rezaei n. Bacillus Calmette-Guérin (BCG) complications associated with primary immu- nodeficiency diseases. J Infect 2012;64:543-54. http://dx.doi.org/10.1016/j.jinf.2012.03.012
• Bonilla FA, Bernstein Il, Khan DA et al. Practice parameter for the of primary immunodeficiency. Ann Allergy Asthma Immunol 2005;94:1-63. http://dx.doi.org/10.1016/S1081-1206(10)61142-8
• De Vries E. Clinical Working Party of the European Society for Immunodeficiencies Patient-center scree- ning for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-Immunologists. Clin Exp Immunol 2006: 204-14. http://dx.doi.org/10.1111/j.1365-2249.2006.03138.x
• Buckley Hr. Evaluation of suspected immunodefici- ency. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson textbook of pediatrics. 18th ed. Philadelphia: Saunders, 2007: 867-73.
• notarangelo lD. Primary immunodeficiencies. J Allergy Clin Immunol 2010;125:182-94. http://dx.doi.org/10.1016/j.jaci.2009.07.053
• Casanova Jl, Abel l. Primary immunodeficiencies: a field in its infancy. Science 2007;317:617-9. http://dx.doi.org/10.1126/science.1142963
• notarangelo lD. Primary immunodeficiencies. J Allergy Clin Immunol 2010;125:182-94. http://dx.doi.org/10.1016/j.jaci.2009.07.053
• Oliveira JB, Fleisher TA. Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol 2010;125:297-305. http://dx.doi.org/10.1016/j.jaci.2009.08.043
• Turvey SE, Bonilla FA, Junker AK. Primary immu- nodeficiency diseases: a practical guide for clinicians. Postgrad Med J 2009;85:660-6. http://dx.doi.org/10.1136/pgmj.2009.080630
• Arkwright PD, Gennery Ar. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci 2011;1238:7-14. http://dx.doi.org/10.1111/j.1749-6632.2011.06206.x