CD19 deficiency: A village screening study Original Article

Yıl 2009, Cilt: 44 Sayı: 4, 27 - 30, 01.12.2009

İsmail Reisli Hasibe Artaç Sevgi Pekcan Reyhan Kara Kadir Yümlü Cüneyt Karagöl Ömer Çimen Metin Şen Mehmet Artaç

Öz

Aim: We identified a new CD19 deficient case who was a relative of the first CD19 deficient patient and lived in the same village These cases suggested that other patients with CD19 deficiency or carriers could be found in this village The aim of this study was to assess the warning signs of primary immunodeficiency and the CD19 molecule deficiency in this population Material and Method: The relatives of CD19 deficient patients and controls were examined for the warning signs of primary immunodeficiency using a questionnaire form Blood samples were taken from these subjects CD19 and CD21 expressions median fluorescent intensity MFI were analyzed by flowcytometry in these samples nbsp; nbsp; nbsp; Results: A total of 208 subjects 59 families 126 females 82 males including 129 children 9 5±3 7 years and 79 adults 37±13 years were evaluated A new case with CD19 deficiency was not detected There was at least one warning sign for immunodeficiency in 67 subjects 57 children and 10 adults CD19 median expression value was lower than 60 MFI value in 20 subjects which was known as in the carriers who were detected to have heterozygous mutation Conclusions: Our findings suggested that CD19 median expression might be a diagnostic tool for the subjects who have CD19 heterozygous mutations Mutation analyses are planned for the confirmation of CD19 heterozygous mutation in these subjects who have low CD19 median expression Turk Arch Ped 2009; 44: 127 30 Key words: A village screening CD19 deficiency CD19 median expression

Anahtar Kelimeler

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CD19 molekül eksikliği: Bir köy taraması Orijinal Araştırma

Öz

Amaç: CD19 eksikliğinin ilk kez tanımlandığı bir olgunun köyünde yaşayan ve akrabası olan bir olguda daha CD19 eksikliği tanımlandı Bu olgular bu köyde yaşayan başka olguların ve taşıyıcıların da olabileceğini düşündürdü Bu amaçla köy halkı immün yetersizlik düşündüren klinik bulgular ve CD19 molekül eksikliği yönünden değerlendirildi nbsp; Gereç ve Yöntem: CD19 eksikliği olgularının akrabaları ve kontrol grubu anket formları ile birincil immün yetersizlik hastalıklarının klinik belirtileri için sorgulandı Olgulardan alınan kan örneklerinde CD19 ve CD21 molekül varlığı akış sitometri ile incelendi Bulgular: Toplam 59 aileden 129 çocuk 9 5±3 7 yıl ve 79 yetişkin 37±13 yıl olmak üzere 208 olgu 126 kadın 82 erkek değerlendirildi Yeni bir CD19 eksikliği olgusu saptanmadı Anket formları ile 67 olguda 57 çocuk 10 yetişkin en az bir uyarıcı immün yetersizlik bulgusu vardı CD19 mediyan ekspresyon değeri MFI 20 olguda CD19 yönünden heterozigot taşıyıcı olan bireylerden elde edilen 60 MFI değerinin altındaydı nbsp;Çıkarımlar: Bulgularımız CD19 eksikliği heterozigot “taşıyıcılığı” açısından CD19 taşıyan B lenfosit oranının değil CD19 mediyan ekspresyon düşüklüğünün yol gösterici olduğunu düşündürmüştür CD19 mediyan ekspresyon değerine göre taşıyıcı oldukları belirlenen bu olguların mutasyon tetkiklerinin yapılarak taşıyıcı olduklarının doğrulanması planlanmıştır Türk Ped Arş 2009; 44: 127 30 Anahtar kelimeler: CD19 mediyan ekspresyonu CD19 molekül eksikliği köy taraması

Anahtar Kelimeler

CD19 mediyan ekspresyonu, CD19 molekül eksikliği, köy taraması

Kaynakça

• Stiehm ER, Ochs HD, and Winkelstein JA. Immunodeficiency Disorders: General Considerations. In: Stiehm ER, Ochs HD, Winkelstein JA (eds). Immunologic disorders in infants and chil- dren. Fifth edition. Philadelphia: Saunders, 2004: 289-355.
• Yel L, Minegishi Y, Coustan-Smith E, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med 1996; 335: 1486-93. (Abstract) / (Full Text) / (PDF)
• Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med 1998; 187: 71-7. (Abstract) / (Full Text) / (PDF)
• Minegishi Y, Coustan-Smith E, Rapalus L, Ersoy F, Campana D, Conley ME. Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J Clin Invest 1999; 104: 1115-21. (Abstract) / (Full Text) / (PDF)
• Minegishi Y, Rohrer J, Coustan-Smith E, et al. An essential role for BLNK in human B cell development. Science 1999; 286: 1954-7. (Abstract) / (Full Text) / (PDF)
• Bacchelli C, Buckridge S, Thrasher AJ, Gaspar HB. Translational mini-review series on immunodeficiency: Molecular defects in com- mon variable immunodeficiency. Clin Exp Immunol 2007; 149: 401-9. (Abstract) / (PDF)
• Allen RC, Armitage RJ, Conley ME, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993; 259: 990-3. (Abstract) / (PDF)
• Revy P, Muto T, Levy Y, et al. Activation-induced cytidine deam- inase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 2000; 102: 565-75. (Abstract) / (PDF)
• Ferrari S, Giliani S, Insalaco A, et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A 2001; 98: 12614-9. (Abstract) / (Full Text) / (PDF)
• Imai K, Slupphaug G, Lee WI, et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol 2003; 4: 1023-8. (Abstract) / (PDF)
• Grimbacher B, Hutloff A, Schlesier M, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunod- eficiency. Nat Immunol 2003; 4: 261-8. (Abstract) / (PDF)
• Salzer U, Chapel HM, Webster AD, et al. Mutations in TNFRSF13B encoding TACI are associated with common vari- able immunodeficiency in humans. Nat Genet 2005; 37: 820-8. (Abstract) / (PDF)
• Rudd CE. Disabled receptor signaling and new primary immun- odeficiency disorders. N Eng J Med 2006: 354; 1874-7. (Abstract) / (Full Text) / (PDF)
• van Zelm MC, Reisli I, van der Burg M, et al. An antibody-defi- ciency syndrome due to mutations in the CD19 gene. N Engl J Med 2006; 354: 1901-12. (Abstract) / (Full Text) / (PDF)
• Kanegane H, Agematsu K, Futatani T, et al. Novel mutations in a Japanese patient with CD19 deficiency. Genes Immun 2007; 8: 663-70. (Abstract) / (Full Text) / (PDF)