Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study

Molecular Immunology

Volumn 46, Issue 10, 2009, Pages 2140-2146

  Tóth, Beáta ^a   Volokha, Alla ^b   Mihas, Alexander ^c   Pac, Malgorzata ^d   Bernatowska, Ewa ^d   Kondratenko, Irina ^e   Polyakov, Alexander ^f   Erdos, Melinda ^a   Pasic, Srdjan ^g   Bataneant, Michaela ^h   Szaflarska, Anna ⁱ   Mironska, Kristina ^j   Richter, Darko ^k   Stavrik, Katarina ^j   Avcin, Tadej ^l   Márton, Gabriella ^m   Nagy, Kálmán ^m   Dérfalvi, Beáta ⁿ   Szolnoky, Miklós ^o   Kalmár, Ágnes ^o   Belevtsev, Michael ^c   Guseva, Marina ^p   Rugina, Aurica ^q   Kriván, Gergely ^r   Timár, László ^r   Nyul, Zoltán ^s   Mosdósi, Bernadett ^s   Kareva, Lidija ^j   Peova, Sonja ^j   Chernyshova, Liudmyla ^b   Gherghina, Ioan ^t   Serban, Margit ^h   Conley, Mary Ellen ^u   Notarangelo, Luigi D ^v   Smith, C I Edvard ^w   van Dongen, Jacques ^x   van der Burg, Mirjam ^x   Maródi, László ^a   more..

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b SHUPYK NATIONAL MEDICAL ACADEMY OF POSTGRADUATE EDUCATION   (Ukraine)

^c Ministry of Health Republic of Belarus   (Belarus)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e Russian Children's Hospital   (Russian Federation)

^f RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^g Mother and Child Health Institute Belgrade rs   (Serbia)

^h Children's Hospital of Timisoara   (Romania)

ⁱ JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^j UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^k KBC Zagreb   (Croatia)

^l UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^m University Teaching Hospital   (Hungary)

ⁿ SEMMELWEIS UNIVERSITY   (Hungary)

^o ST JOHN'S HOSPITAL   (Hungary)

^p SAINT PETERSBURG STATE PEDIATRIC MEDICAL UNIVERSITY   (Russian Federation)

^q Children's Hospital   (Romania)

^r Szent Laszlo Hospital   (Hungary)

^s UNIVERSITY OF PÉCS   (Hungary)

^t Institute of Mother and Child Protection Alfred Rusescu   (Romania)

^u UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^v BOSTON CHILDREN S HOSPITAL   (United States)

^w KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^x ERASMUS MEDICAL CENTER   (Netherlands)

more..

Author keywords

Bruton's tyrosine kinase; Demographics; Eastern and Central Europe; X linked agammaglobulinemia

Indexed keywords

BRUTON TYROSINE KINASE; GENOMIC DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ARTICLE; B LYMPHOCYTE; BELARUS; COHORT ANALYSIS; CROATIA; DEMOGRAPHY; EASTERN EUROPE; GENE MUTATION; HUMAN; HUNGARY; IMMUNOGLOBULIN BLOOD LEVEL; INFECTION SENSITIVITY; MACEDONIA (REPUBLIC); MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; POLAND; PREVALENCE; PRIORITY JOURNAL; ROMANIA; RUSSIAN FEDERATION; SEQUENCE ANALYSIS; SERBIA; SLOVENIA; UKRAINE; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; COHORT STUDIES; DEMOGRAPHY; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC DISEASES, X-LINKED; HUMANS; MUTATION; PREVALENCE; PROTEIN STRUCTURE, TERTIARY; PROTEIN-TYROSINE KINASES;

EID: 65649138131     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2009.03.012     Document Type: Article

References (23)

1. Casanova J.L., and Abel L. Primary immunodeficiencies: a field in its infancy. Science 317 (2007) 617-619
2. Conley M.E., Mathias D., Treadaway J., Minegishi Y., and Rohrer J. Mutations in Btk in patients with presumed X-linked agammaglobulinemia. Am. J. Hum. Genet. 62 (1998) 1034-1043
3. den Dunnen J.T., and Antonarakis E. Nomenclature for the description of human sequence variations. Hum. Genet. 109 (2001) 121-124
4. Fiorini M., Franceschini R., Soresina A., Schumacher R.F., Ugazio A.G., Rossi P., Plebani A., and Notarangelo L.D. BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. Hum. Mutat. 23 (2004) 286 In brief
5. Gaspar H.B., Bradley L.A., Katz F., Lovering R.C., Roifman C.M., Morgan G., Levinski R.J., and Kinnon C. Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot. Hum. Mol. Genet. 4 (1995) 755-757
6. Holinski-Feder E., Weiss M., Brandau O., Jedele K.B., Nore B., Backesjo C.M., Vihinen M., Hubbard S.R., Belohradsky B.H., Smith C.I.E., and Meindl A. Mutational screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics 101 (1998) 276-278
7. Jin H., Webster A.D., Vihinen M., Sideras P., Vorechovsky I., Hammarstróm L., Bernatowska-Matuszkiewicz E., Smith C.I.E., Bobrow M., and Vetrie D. Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). Hum. Mol. Genet. 4 (1995) 693-700
8. Jyonouchi H., Geng L., Törüner G.A., Vinekar K., Feng D., and Fitzgerald-Bocarsly P. Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; evidence of intact dendritic cell development and TLR responses. Eur. J. Pediatr. 167 (2008) 317-321
9. Lindvall J.M., Blomberg K.E.M., Väliaho J., Vargas L., Heinonen J.E., Berglöf A., Mohamed A.J., Nore B.F., Vihinen M., and Smith C.I.E. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol. Rev. 203 (2005) 200-215
10. Maródi L., and Notarangelo L.D. Education and worldwide collaboration pays off. Nat. Immunol. 8 (2007) 323-324
11. Mohamed A.J., Yu L., Backesjo C.M., Vargas L., Faryal R., Aints A., Christensson B., Berglöf A., Vihinen M., Nore B.F., and Smith C.I.E. Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain. Immunol. Rev. 228 (2009) 1-16
12. Noordzij J.G., de Bruin-Versteeg S., Hartwig N.G., Weemaes C.M., Gerritsen E.J., Bernatowska E., van Lierde S., de Groot R., and van Dongen J.J. XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. J. Clin. Immunol. 22 (2002) 306-318
13. Ochs H.D., and Smith C.I.E. X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine 75 (1996) 287-299
14. Plebani A., Soresina A., Rondelli R., Amato G.M., Azzari C., Cardinale F., Cazzola G., Consolini R., De Mattia D., Dell'Erba G., Duse M., Fiorini M., Martino S., Martire B., Masi M., Monafo V., Moschese V., Notarangelo L.D., Orlandi P., Panei P., Pession A., Pietrogrande M.C., Pignata C., Quinti I., Ragno V., Rossi P., Sciotto A., Stabile A., and Italian Pediatric Group for XLA-AIEOP. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin. Immunol. 104 (2002) 221-230
15. Richter D., Conley M.E., Rohrer J., Myers L.A., Zahradka K., Kelecić J., Sertić J., and Stavljenić-Rukavina A. A contiguous deletion syndrome of X-linked a gammaglobulinemia and sensorineural deafness. Pediatr. Allergy Immunol. 12 (2001) 107-111
16. Rohrer J., Minegishi Y., Richter D., Eguiguren J., and Conley M.E. Unusual mutations in Btk: an insertion, duplication, an inversion, and four large deletions. Clin. Immunol. 90 (1999) 28-37
17. Saha B.K., Curtis S.K., Vogler L.B., and Vihinen M. Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. Mol. Med. 3 (1997) 477-485
18. Speletas M., Kanariou M., Kanakoudi-Tsakalidou F., Papadopoulou-Alataki E., Arvanitidis K., Pardali E., Constantopoulos A., Kartalis G., Vihinen M., Sideras P., and Ritis K. Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece. Scand. J. Immunol. 54 (2001) 321-327
19. Tsukada S., Saffran D.C., Rawlings D.J., Parolini O., Allen R.C., Klisak I., Sparkes R.S., Kubagawa H., Mohandas T., Quan S., Belmond J.W., Cosper M.D., Conley M.E., and Witte O.N. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72 (1993) 279-290
20. van Zelm M.C., Geertsema C., Nieuwenhuis N., de Ridder D., Conley M.E., Schiff C., Tezcan I., Bernatowska E., Hartwig N.G., Sanders E.A., Litzman J., Kondratenko I., van Dongen J.J., and van der Burg M. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Am. J. Hum. Genet. 82 (2008) 320-332
21. Vetrie D., Vorechovsky I., Sideras P., Holland J., Davies A., Flinter F., Hammarstrom L., Kinnon C., Levinsky R., Bobrow M., Smith C.I.E., and Bentley D.R. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein tyrosine kinases. Nature 361 (1993) 226-233
22. Vihinen M., Mattsson P.T., and Smith C.I.E. Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA). Front. Biosci. 5 (2000) 917-928
23. Winkelstein J.A., Marino M.C., Lederman H.M., Jones S.M., Sullivan K., Burks A.W., Conley M.E., Cunningham-Rundles C., and Ochs H.D. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine 85 (2006) 193-202