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Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome

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References

  1. Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;5:162. doi:10.3389/fimmu.2014.00162.

    PubMed  PubMed Central  Google Scholar 

  2. Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet. 2003;34(1):70–4. doi:10.1038/ng1149.

    Article  CAS  PubMed  Google Scholar 

  3. Liu Q, Chen H, Ojode T, Gao X, Anaya-O'Brien S, Turner NA, et al. WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. Blood. 2012;120(1):181–9. doi:10.1182/blood-2011-12-395608.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Tassone L, Moratto D, Vermi W, De Francesco M, Notarangelo LD, Porta F, et al. Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. Blood. 2010;116(23):4870–3. doi:10.1182/blood-2010-03-272096.

    Article  CAS  PubMed  Google Scholar 

  5. Takaya J, Fujii Y, Higashino H, Taniuchi S, Nakamura M, Kaneko K. A case of WHIM syndrome associated with diabetes and hypothyroidism. Pediatr Diabetes. 2009;10(7):484–6. doi:10.1111/j.1399-5448.2009.00503.x.

    Article  PubMed  Google Scholar 

  6. Tarzi MD, Jenner M, Hattotuwa K, Faruqi AZ, Diaz GA, Longhurst HJ. Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome. J Allergy Clin Immunol. 2005;116(5):1101–5. doi:10.1016/j.jaci.2005.08.040.

    Article  PubMed  Google Scholar 

  7. Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, et al. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood. 2004;104(2):444–52. doi:10.1182/blood-2003-10-3532.

    Article  CAS  PubMed  Google Scholar 

  8. Hagan JB, Nguyen PL. WHIM syndrome. Mayo Clin Proc. 2007;82(9):1031. doi:10.4065/82.9.1031.

    Article  PubMed  Google Scholar 

  9. Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli F, et al. Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. J Pediatr. 2012;161(4):763–5. doi:10.1016/j.jpeds.2012.05.058.

    Article  PubMed  PubMed Central  Google Scholar 

  10. McDermott DH, Gao JL, Liu Q, Siwicki M, Martens C, Jacobs P, et al. Chromothriptic cure of WHIM syndrome. Cell. 2015;160(4):686–99. doi:10.1016/j.cell.2015.01.014.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Yoshii Y, Kato T, Ono K, Takahashi E, Fujimoto N, Kobayashi S, et al. Primary cutaneous follicle center lymphoma in a patient with WHIM syndrome. J Eur Acad Dermatol Venereol: JEADV. 2016;30(3):529–30. doi:10.1111/jdv.12927.

  12. Chen XJ, Yang WY, Wang SC, Guo Y, Liu F, Qi BQ, et al. WHIM syndrome: a case report and literature review. Zhonghua er ke za zhi. Chinese journal of pediatrics. 2013;51(3):178–82.

    PubMed  Google Scholar 

  13. Handisurya A, Schellenbacher C, Reininger B, Koszik F, Vyhnanek P, Heitger A, et al. A quadrivalent HPV vaccine induces humoral and cellular immune responses in WHIM immunodeficiency syndrome. Vaccine. 2010;28(30):4837–41. doi:10.1016/j.vaccine.2010.04.057.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Siedlar M, Rudzki Z, Strach M, Trzyna E, Pituch-Noworolska A, Blaut-Szlosarczyk A, et al. Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. Arch Immunol Ther Exp. 2008;56(6):419–25. doi:10.1007/s00005-008-0046-x.

    Article  CAS  Google Scholar 

  15. Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, et al. Description and outcome of a cohort of 8 patients with WHIM syndrome from the French severe chronic neutropenia registry. Orphanet journal of rare diseases. 2012;7:71. doi:10.1186/1750-1172-7-71.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet journal of rare diseases. 2011;6:26. doi:10.1186/1750-1172-6-26.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Treon SP, Cao Y, Xu L, Yang G, Liu X, Hunter ZR. Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia. Blood. 2014;123(18):2791–6. doi:10.1182/blood-2014-01-550905.

    Article  CAS  PubMed  Google Scholar 

  18. Schmidt J, Federmann B, Schindler N, Steinhilber J, Bonzheim I, Fend F, et al. MYD88 L265P and CXCR4 mutations in lymphoplasmacytic lymphoma identify cases with high disease activity. Br J Haematol. 2015;169(6):795–803. doi:10.1111/bjh.13361.

    Article  CAS  PubMed  Google Scholar 

  19. Dotta L, Tassone L, Badolato R. Clinical and genetic features of warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. Curr Mol Med. 2011;11(4):317–25.

    Article  CAS  PubMed  Google Scholar 

  20. Diaz GA, Gulino AV. WHIM syndrome: a defect in CXCR4 signaling. Current allergy and asthma reports. 2005;5(5):350–5.

    Article  CAS  PubMed  Google Scholar 

  21. Krivan G, Erdos M, Kallay K, Benyo G, Toth A, Sinko J, et al. Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome. Eur J Haematol. 2010;84(3):274–5. doi:10.1111/j.1600-0609.2009.01368.x.

    Article  CAS  PubMed  Google Scholar 

  22. McDermott DH, Gao JL, Murphy PM. Chromothriptic cure of WHIM syndrome: implications for bone marrow transplantation. Rare diseases. 2015;3(1):e1073430. doi:10.1080/21675511.2015.1073430.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Bhar S, Yassine K, Martinez C, Sasa G, Naik S, Mahoney D, et al. Allogeneic stem cell transplantation in a pediatric patient with whim syndrome. Blood. 2015;126(23).

  24. Podjasek JC, Abraham RS. Autoimmune cytopenias in common variable immunodeficiency. Front Immunol. 2012;3:189. doi:10.3389/fimmu.2012.00189.

    Article  PubMed  PubMed Central  Google Scholar 

  25. Latif AH, Tabassomi F, Abolhassani H, Hammarstrom L. Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example. Expert Rev Clin Immunol. 2014;10(3):385–96. doi:10.1586/1744666X.2014.880654.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, 62 Qarib St., Keshavarz Blvd., Tehran, 14194, Iran

    Asghar Aghamohammadi, Hassan Abolhassani & Nima Rezaei

  2. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran

    Asghar Aghamohammadi

  3. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden

    Hassan Abolhassani

  4. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Stockholm, Sweden

    Hassan Abolhassani

  5. Department of Pediatrics, Dr. von Hauner Children’s Hospital, Ludwig Maximilians University, Munich, Germany

    Jacek Puchalka, Naschla Greif-Kohistani & Christoph Klein

  6. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Samaneh Zoghi & Nima Rezaei

  7. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

    Samaneh Zoghi & Nima Rezaei

Authors
  1. Asghar Aghamohammadi
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  2. Hassan Abolhassani
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  3. Jacek Puchalka
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  4. Naschla Greif-Kohistani
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  5. Samaneh Zoghi
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  6. Christoph Klein
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  7. Nima Rezaei
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Corresponding author

Correspondence to Nima Rezaei.

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Aghamohammadi, A., Abolhassani, H., Puchalka, J. et al. Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome. J Clin Immunol 37, 282–286 (2017). https://doi.org/10.1007/s10875-017-0387-5

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  • DOI: https://doi.org/10.1007/s10875-017-0387-5

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