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Dimitriades VR, Devlin V, Pittaluga S, et al. DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation. Front Pediatr. 2017;5:38doi: 10.3389/fped.2017.00038.
Dimitriades, V. R., Devlin, V., Pittaluga, S., Su, H. C., Holland, S. M., Wilson, W., Dunleavy, K., Shah, N. N., & Freeman, A. F. (2017). DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation. Frontiers in pediatrics, 538. https://doi.org/10.3389/fped.2017.00038
Dimitriades, Victoria R, et al. "DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation." Frontiers in pediatrics vol. 5 (2017): 38. doi: https://doi.org/10.3389/fped.2017.00038
Dimitriades VR, Devlin V, Pittaluga S, Su HC, Holland SM, Wilson W, Dunleavy K, Shah NN, Freeman AF. DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation. Front Pediatr. 2017 Feb 28;5:38. doi: 10.3389/fped.2017.00038. eCollection 2017. PMID: 28293550; PMCID: PMC5328973.
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Front Pediatr. 2017 Feb 28;5:38. doi: 10.3389/fped.2017.00038. eCollection 2017.

DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation.

Frontiers in pediatrics

Victoria R Dimitriades, Vincent Devlin, Stefania Pittaluga, Helen C Su, Steven M Holland, Wyndham Wilson, Kieron Dunleavy, Nirali N Shah, Alexandra F Freeman

Affiliations

  1. Department of Pediatrics, Division of Infectious Diseases, Immunology & Allergy, University of California Davis Medical Center , Sacramento, CA , USA.
  2. Department of Pediatrics, Louisiana State University Health Sciences Center , New Orleans, LA , USA.
  3. Department of Pathology, NCI, NIH , Bethesda, MD , USA.
  4. NIAID, NIH , Bethesda, MD , USA.
  5. NCI, NIH , Bethesda, MD , USA.

PMID: 28293550 PMCID: PMC5328973 DOI: 10.3389/fped.2017.00038

Abstract

Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl was initially evaluated for mild eczema and recurrent sinopulmonary infections. She had normal immunoglobulins with elevated IgE, poor polysaccharide response with low switched memory B cells, low CD4 count, and normal mitogen and antigen responses. Despite clinical improvement following immunoglobulin replacement, a prolonged cough prompted a CT scan, which showed nodules. Biopsy identified a Grade 2 EBV + LYG. Due to an inadequate response with chemotherapy, further workup for primary immunodeficiency was performed. With her symptoms of eczema and IgE elevation, along with her brother's history of recurrent sinopulmonary infections and warts, targeted sequencing of DOCK8 was performed revealing compound heterozygous mutations for the two siblings. Both patients were successfully transplanted with resolution of the LYG and warts, respectively. This is the first reported case of LYG in DOCK8 deficiency. The EBV-driven lymphoproliferative disease along with the infection history in the brother led to the diagnosis of DOCK8 deficiency and curative hematopoietic stem cell transplants.

Keywords: DOCK8; bone marrow transplantation; eBV lymphoproliferation; lymphomatoid granulomatosis; lymphomatous granulomatosis

References

  1. Ann N Y Acad Sci. 2011 Dec;1246:26-33 - PubMed
  2. J Clin Immunol. 2015 Feb;35(2):189-98 - PubMed
  3. J Allergy Clin Immunol. 2014 Jun;133(6):1667-75 - PubMed
  4. Nat Immunol. 2009 Dec;10(12):1283-91 - PubMed
  5. J Allergy Clin Immunol. 2016 Sep;138(3):852-859.e3 - PubMed
  6. J Allergy Clin Immunol. 2013 Mar;131(3):840-8 - PubMed
  7. Biol Blood Marrow Transplant. 2015 Jun;21(6):1037-45 - PubMed
  8. Cancer J. 2012 Sep-Oct;18(5):469-74 - PubMed
  9. Eur J Immunol. 2011 Dec;41(12):3423-35 - PubMed
  10. N Engl J Med. 2009 Nov 19;361(21):2046-55 - PubMed
  11. J Exp Med. 2014 Dec 15;211(13):2549-66 - PubMed
  12. J Allergy Clin Immunol. 2015 Aug;136(2):402-12 - PubMed

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