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Dock8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients Publisher Pubmed



Aydin SE1 ; Kilic SS2 ; Aytekin C3 ; Kumar A4 ; Porras O5 ; Kainulainen L6 ; Kostyuchenko L7 ; Genel F8 ; Kutukculer N9 ; Karaca N9 ; Gonzalezgranado L10 ; Abbott J11 ; Alzahrani D12 ; Rezaei N13, 14 Show All Authors
Authors
  1. Aydin SE1
  2. Kilic SS2
  3. Aytekin C3
  4. Kumar A4
  5. Porras O5
  6. Kainulainen L6
  7. Kostyuchenko L7
  8. Genel F8
  9. Kutukculer N9
  10. Karaca N9
  11. Gonzalezgranado L10
  12. Abbott J11
  13. Alzahrani D12
  14. Rezaei N13, 14
  15. Baz Z15
  16. Thiel J16, 17
  17. Ehl S17
  18. Marodi L18
  19. Orange JS19
  20. Sawallebelohradsky J1
  21. Keles S20
  22. Holland SM21
  23. Sanal O22
  24. Ayvaz DC22
  25. Tezcan I22
  26. Almousa H23
  27. Alsum Z24
  28. Hawwari A24
  29. Metin A25
  30. Matthesmartin S26
  31. Honig M27
  32. Schulz A27
  33. Picard C28, 29, 30
  34. Barlogis V31
  35. Gennery A32
  36. Ifversen M33
  37. Van Montfrans J34
  38. Kuijpers T35
  39. Bredius R36
  40. Duckers G37
  41. Alherz W38, 39
  42. Pai SY40, 41
  43. Geha R42
  44. Notheis G1
  45. Schwarze CP43
  46. Tavil B44
  47. Azik F44
  48. Bienemann K45
  49. Grimbacher B16, 17
  50. Heinz V1
  51. Gaspar HB46
  52. Aydin R1
  53. Hagl B1
  54. Gathmann B17
  55. Belohradsky BH1
  56. Ochs HD47
  57. Chatila T42
  58. Renner ED1
  59. Su H16
  60. Freeman AF16
  61. Engelhardt K16, 17
  62. Albert MH1, 48

Source: Journal of Clinical Immunology Published:2015


Abstract

Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median follow-up of 11.3 years (1.3–47.7) spanning 1693 patient years, were enrolled. Eczema, recurrent respiratory tract infections, allergies, abscesses, viral infections and mucocutaneous candidiasis were the most frequent clinical manifestations. Overall survival probability in this cohort [censored for hematopoietic stem cell transplantation (HSCT)] was 87 % at 10, 47 % at 20, and 33 % at 30 years of age, respectively. Event free survival was 44, 18 and 4 % at the same time points if events were defined as death, life-threatening infections, malignancy or cerebral complications such as CNS vasculitis or stroke. Malignancy was diagnosed in 23/136 (17 %) patients (11 hematological and 9 epithelial cancers, 5 other malignancies) at a median age of 12 years. Eight of these patients died from cancer. Severe, life-threatening infections were observed in 79/136 (58 %); severe non-infectious cerebral events occurred in 14/136 (10 %). Therapeutic measures included antiviral and antibacterial prophylaxis, immunoglobulin replacement and HSCT. This study provides a comprehensive evaluation of the clinical phenotype of DOCK8 deficiency in the largest cohort reported so far and demonstrates the severity of the disease with relatively poor prognosis. Early HSCT should be strongly considered as a potential curative measure. © 2015, Springer Science+Business Media New York.
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