Skip to main content

Advertisement

Log in

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia

  • Letter to Editor
  • Published:
Journal of Clinical Immunology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Rider NL, Morton DH, Puffenberger E, Hendrickson CL, Robinson DL, Strauss KA. Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. Clin Immunol. 2009;131(1):119–28.

    Article  CAS  Google Scholar 

  2. Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, et al. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood. 2010;116(1):27–35.

    Article  CAS  Google Scholar 

  3. Makitie O, Kaitila I. Cartilage-hair hypoplasia—clinical manifestations in 108 Finnish patients. Eur J Pediatr. 1993;152(3):211–7.

    Article  CAS  Google Scholar 

  4. Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, et al. Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. Blood. 2009;114(1):105–8.

    Article  CAS  Google Scholar 

  5. de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, et al. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2011;128(1):139–46.

    Article  Google Scholar 

  6. Kostjukovits S, Degerman S, Pekkinen M, Klemetti P, Landfors M, Roos G, et al. Decreased telomere length in children with cartilage-hair hypoplasia. J Med Genet. 2017;54(5):365–70.

    Article  CAS  Google Scholar 

  7. Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann N Y Acad Sci. 2011;1246:77–91.

    Article  CAS  Google Scholar 

  8. Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, et al. Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol. 2015;136(5):1401–4 e1-3.

    Article  CAS  Google Scholar 

  9. Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, et al. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Investig. 2015;125(11):4135–48.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Luigi D. Notarangelo.

Ethics declarations

All individuals who participated, or their guardians, signed an informed consent, and the study was approved by the Institutional Review Boards at the referring institutions.

Financial Support

This work was supported in part with funds from the NIAID Division of Intramural Research. CMB received support from NIH grant T32AI007512 and is currently supported by the CAAIF/AllerGen Research Fellowship and the AllerGen Emerging Clinician-Scientist Research Fellowship. SK is supported by the Doctoral School in Health Sciences at the University of Helsinki. MT is supported by the Foundation for Pediatric Research. OM is supported by the Sigrid Jusélius Foundation, the Academy of Finland, the Folkhälsan Research Foundation, the Helsinki University Hospital Research Funds, and the Swedish Childhood Cancer Foundation.

Conflict of Interest

The authors declare that they have no conflict of interest.

Electronic Supplementary Material

Figure S1

(PDF 79 kb)

Table S1

(PDF 48 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Biggs, C.M., Kostjukovits, S., Dobbs, K. et al. Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia. J Clin Immunol 37, 508–510 (2017). https://doi.org/10.1007/s10875-017-0408-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-017-0408-4

Navigation