Yıl: 2017 Cilt: 47 Sayı: 1 Sayfa Aralığı: 1 - 12 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

Adults with common variable immunodeficiency: a singlecenter experience

Öz:
Background/aim: In this study, we aimed to assess the clinical and immunological findings of our patients with common variable immunodeficiency (CVID). Materials and methods: We analyzed the records of 31 adult patients with CVID (12 females, 19 males). The patients were classified into clinical and immunophenotypic subgroups for statistical comparisons. Results: Our patients had some clinical signs in considerable frequencies, such as low body weight (45.2%), urinary tract infections (41.9%), various dermatoses (35.5%), and oral aphthae (32.3%). The histological findings in the biopsy specimens of the gastrointestinal tract (nodular lymphoid hyperplasia, villous atrophy, and lymphocytic infiltrates at mucosa) were significantly associated with splenomegaly, hepatomegaly, or low body weight (P = 0.005, 0.045, and 0.007, respectively). The patients with low CD4/CD8 ratios had lower IgG levels and a lower percentage of CD19+ B cells, but a higher percentage of activated T cells (P = 0.023, 0.011, and 0.028, respectively). Conclusion: In adults with CVID, there existed some clinical signs at considerable frequencies, but these are not overemphasized in the literature. The CD4/CD8 ratio is an important factor in antibody production and the clinical presentation of CVID. It seems that the adaptive immune system is on alert and subclinical immune activation insidiously continues in patients with CVID.
Anahtar Kelime:

Konular: Cerrahi
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Gathmann B, Mahlaoui N, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW, Dutch WID, van Beem RT et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol 2014; 134: 116-126.
  • 2. Kopecký O, Lukesová S. Genetic defects in common variable immunodeficiency. Int J Immunogenet 2007; 34: 225-229.
  • 3. Nijenhuis T, Klasen I, Weemaes CM, Preijers F, de Vries E, van der Meer JW. Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance. Neth J Med 2001; 59: 134-139.
  • 4. Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, Vlkova M, Hernandez M, Detkova D, Bos PR et al. The EUROClass trial: defining subgroups in common variable immunodeficiency. Blood 2008; 111: 77-85.
  • 5. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (PANAmerican Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999; 93: 190- 197.
  • 6. Maple-Brown LJ, Lawton PD, Hughes JT, Sharma SK, Jones GR, Ellis AG, Hoy W, Cass A, Macisaac RJ, Sinha AK et al. Study Protocol--accurate assessment of kidney function in Indigenous Australians: aims and methods of the eGFR study. BMC Public Health 2010; 10: 80.
  • 7. Santagostino A, Garbaccio G, Pistorio A, Bolis V, Camisasca G, Pagliaro P, Girotto M. An Italian national multicenter study for the definition of reference ranges for normal values of peripheral blood lymphocyte subsets in healthy adults. Haematologica 1999; 84: 499-504.
  • 8. Cunningham-Rundles C. How I treat common variable immune deficiency. Blood 2010; 116: 7-15.
  • 9. Oksenhendler E, Gérard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, Viallard JF, Gardembas M, Galicier L, Schleinitz N et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis 2008; 46: 1547-1554.
  • 10. Malphettes M, Gérard L, Carmagnat M, Mouillot G, Vince N, Boutboul D, Bérezné A, Nove-Josserand R, Lemoing V, Tetu L et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis 2009; 49: 1329-1338.
  • 11. Aghamohammadi A, Abolhassani H, Moazzami K, Parvaneh N, Rezaei N. Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. J Investig Allergol Clin Immunol 2010; 20: 372-379.
  • 12. Ardeniz O, Başoğlu OK, Günşar F, Unsel M, Bayraktaroğlu S, Mete N, Gülbahar O, Sin A. Clinical and immunological analysis of 23 adult patients with common variable immunodeficiency. J Investig Allergol Clin Immunol 2010; 20: 222-236.
  • 13. Carvalho KI, Melo KM, Bruno FR, Snyder-Cappione JE, Nixon DF, Costa-Carvalho BT, Kallas EG. Skewed distribution of circulating activated natural killer T (NKT) cells in patients with common variable immunodeficiency disorders (CVID). PLoS One 2010; 5: e12652.
  • 14. Thickett KM, Kumararatne DS, Banerjee AK, Dudley R, Stableforth DE. Common variable immune deficiency: respiratory manifestations, pulmonary function and highresolution CT scan findings. QJM 2002; 95: 655-662.
  • 15. Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, Sorensen RU, Notarangelo LD, Modell F. Global study of primary immunodeficiency diseases (PI) diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res 2011; 51: 61-70.
  • 16. Harrington RD, Hooton TM. Urinary tract infection risk factors and gender. J Gend Specif Med 2000; 3: 27-34.
  • 17. Patuzzo G, Mazzi F, Vella A, Ortolani R, Barbieri A, Tinazzi E, Marchi G, Codella O, Beri R, Puccetti A et al. Immunophenotypic analysis of B lymphocytes in patients with common variable immunodeficiency: identification of CD23 as a useful marker in the definition of the disease. ISRN Immunology 2013, 2013: 512527.
  • 18. Porter SR, Scully C. Orofacial manifestations in primary immunodeficiencies: common variable immunodeficiencies. J Oral Pathol Med 1993; 22: 157-158.
  • 19. Estrada Pérez V, Pérez de la Serna J, García Paredes J, Cortés León M, Gutiérrez Marcos FM, Estrada Sáiz RV. Digestive manifestations of common variable immunodeficiency. Rev Clin Esp 1991; 188: 142-146.
  • 20. Meighani G, Aghamohammadi A, Javanbakht H, Abolhassani H, Nikayin S, Jafari SM, Ghandehari Motlagh M, Shamshiri AR, Rezaei N. Oral and dental health status in patients with primary antibody deficiencies. Iran J Allergy Asthma Immunol 2011; 10: 289-293.
  • 21. Cunningham-Rundles C. The many faces of common variable immunodeficiency. Hematology Am Soc Hematol Educ Program 2012; 2012: 301-305.
  • 22. Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, Fieschi C, Thon V, Abedi MR, Hammarstrom L. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008; 112: 277-286.
  • 23. Ward C, Lucas M, Piris J, Collier J, Chapel H. Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol 2008; 153: 331-337.
  • 24. Ghoshal UC, Goel A, Ghoshal U, Jain M, Misra A, Choudhuri G. Chronic diarrhea and malabsorption due to hypogammaglobulinemia: a report on twelve patients. Indian J Gastroenterol 2011; 30: 170-174.
  • 25. Bateman EA, Ayers L, Sadler R, Lucas M, Roberts C, Woods A, Packwood K, Burden J, Harrison D, Kaenzig N et al. T cell phenotypes in patients with common variable immunodeficiency disorders: associations with clinical phenotypes in comparison with other groups with recurrent infections. Clin Exp Immunol 2012; 170; 202-211.
  • 26. Giovannetti A, Pierdominici M, Mazzetta F, Marziali M, Renzi C, Mileo AM, De Felice M, Mora B, Esposito A, Carello R et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol 2007; 178: 3932-3943.
  • 27. de Wit J, Jorritsma T, Makuch M, Remmerswaal EB, Klaasse Bos H, Souwer Y, Neefjes J, ten Berge IJ, van Ham SM. Human B cells promote T-cell plasticity to optimize antibody response by inducing coexpression of T (H) 1/T (FH) signatures. J Allergy Clin Immunol 2015; 135: 1053-1060.
  • 28. Bouaziz JD, Yanaba K, Venturi GM, Wang Y, Tisch RM, Poe JC, Tedder TF. Therapeutic B cell depletion impairs adaptive and autoreactive CD4+ T cell activation in mice. P Natl Acad Sci USA 2007; 104: 20878-20883.
  • 29. Uppal SS, Gupta S, Verma S. Correlation of clinical and laboratory surrogate markers of immunodepletion with T cell subsets (CD4 & CD8) determined flow cytometrically in HIV infected patients: a hospital based study. J Commun Dis 2003; 35: 140-153.
  • 30. Aspalter RM, Sewell WA, Dolman K, Farrant J, Webster AD. Deficiency in circulating natural killer (NK) cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia. Clin Exp Immunol 2000; 121: 506-514.
  • 31. Baumert E, Wolff-Vorbeck G, Schlesier M, Peter HH. Immunophenotypical alterations in a subset of patients with common variable immunodeficiency (CVID). Clin Exp Immunol 1992; 90: 25-30.
  • 32. Savasan S, Warrier I, Buck S, Kaplan J, Ravindranath Y. Increased lymphocyte Fas expression and high incidence of common variable immunodeficiency disorder in childhood Evans’ syndrome. Clin Immunol 2007; 125: 224-229.
  • 33. Dave P, Krishna K, Diwan AG. Evan’s syndrome revisited. J Assoc Physicians India 2012; 60: 60-61.
  • 34. Tamura J, Kubota K, Murakami H, Sawamura M, Matsushima T, Tamura T, Saitoh T, Kurabayshi H, Naruse T. Immunomodulation by vitamin B12: augmentation of CD8+ T lymphocytes and natural killer (NK) cell activity in vitamin B12-deficient patients by methyl-B12 treatment. Clin Exp Immunol 1999; 116: 28-32.
  • 35. Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood 2014; 123: 1989-1999.
  • 36. Roberts CA, Ayers L, Bateman EA, Sadler R, Magerus-Chatinet A, Rieux-Laucat F, Misbah SA, Ferry BL. Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers. Hum Immunol 2013; 74: 1531-1535.
APA MUŞABAK U, DEMİREL F, yesillik s, BAYSAN A, SELCUK A, Kartal Ö, Gulec M, ÖKTENLİ Ç, ŞENER O (2017). Adults with common variable immunodeficiency: a singlecenter experience. , 1 - 12.
Chicago MUŞABAK Uğur Haci,DEMİREL Fevzi,yesillik sait,BAYSAN ABDULLAH,SELCUK ALİ,Kartal Özgür,Gulec Mustafa,ÖKTENLİ Çağatay,ŞENER Osman Adults with common variable immunodeficiency: a singlecenter experience. (2017): 1 - 12.
MLA MUŞABAK Uğur Haci,DEMİREL Fevzi,yesillik sait,BAYSAN ABDULLAH,SELCUK ALİ,Kartal Özgür,Gulec Mustafa,ÖKTENLİ Çağatay,ŞENER Osman Adults with common variable immunodeficiency: a singlecenter experience. , 2017, ss.1 - 12.
AMA MUŞABAK U,DEMİREL F,yesillik s,BAYSAN A,SELCUK A,Kartal Ö,Gulec M,ÖKTENLİ Ç,ŞENER O Adults with common variable immunodeficiency: a singlecenter experience. . 2017; 1 - 12.
Vancouver MUŞABAK U,DEMİREL F,yesillik s,BAYSAN A,SELCUK A,Kartal Ö,Gulec M,ÖKTENLİ Ç,ŞENER O Adults with common variable immunodeficiency: a singlecenter experience. . 2017; 1 - 12.
IEEE MUŞABAK U,DEMİREL F,yesillik s,BAYSAN A,SELCUK A,Kartal Ö,Gulec M,ÖKTENLİ Ç,ŞENER O "Adults with common variable immunodeficiency: a singlecenter experience." , ss.1 - 12, 2017.
ISNAD MUŞABAK, Uğur Haci vd. "Adults with common variable immunodeficiency: a singlecenter experience". (2017), 1-12.
APA MUŞABAK U, DEMİREL F, yesillik s, BAYSAN A, SELCUK A, Kartal Ö, Gulec M, ÖKTENLİ Ç, ŞENER O (2017). Adults with common variable immunodeficiency: a singlecenter experience. Turkish Journal of Medical Sciences, 47(1), 1 - 12.
Chicago MUŞABAK Uğur Haci,DEMİREL Fevzi,yesillik sait,BAYSAN ABDULLAH,SELCUK ALİ,Kartal Özgür,Gulec Mustafa,ÖKTENLİ Çağatay,ŞENER Osman Adults with common variable immunodeficiency: a singlecenter experience. Turkish Journal of Medical Sciences 47, no.1 (2017): 1 - 12.
MLA MUŞABAK Uğur Haci,DEMİREL Fevzi,yesillik sait,BAYSAN ABDULLAH,SELCUK ALİ,Kartal Özgür,Gulec Mustafa,ÖKTENLİ Çağatay,ŞENER Osman Adults with common variable immunodeficiency: a singlecenter experience. Turkish Journal of Medical Sciences, vol.47, no.1, 2017, ss.1 - 12.
AMA MUŞABAK U,DEMİREL F,yesillik s,BAYSAN A,SELCUK A,Kartal Ö,Gulec M,ÖKTENLİ Ç,ŞENER O Adults with common variable immunodeficiency: a singlecenter experience. Turkish Journal of Medical Sciences. 2017; 47(1): 1 - 12.
Vancouver MUŞABAK U,DEMİREL F,yesillik s,BAYSAN A,SELCUK A,Kartal Ö,Gulec M,ÖKTENLİ Ç,ŞENER O Adults with common variable immunodeficiency: a singlecenter experience. Turkish Journal of Medical Sciences. 2017; 47(1): 1 - 12.
IEEE MUŞABAK U,DEMİREL F,yesillik s,BAYSAN A,SELCUK A,Kartal Ö,Gulec M,ÖKTENLİ Ç,ŞENER O "Adults with common variable immunodeficiency: a singlecenter experience." Turkish Journal of Medical Sciences, 47, ss.1 - 12, 2017.
ISNAD MUŞABAK, Uğur Haci vd. "Adults with common variable immunodeficiency: a singlecenter experience". Turkish Journal of Medical Sciences 47/1 (2017), 1-12.