Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome

Journal of Clinical Immunology

Volumn 35, Issue 4, 2015, Pages 366-372

  Nikolajeva, Olga ^a   Worth, Austen ^a   Hague, Rosie ^b   Martinez Alier, Nuria ^c   Smart, Joanne ^d   Adams, Stuart ^a   Davies, E Graham ^a   Gaspar, H Bobby ^a,e  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

adenosine deaminase deficiency; atypical haemolytic uremic syndrome; deoxyadenosine triphosphate toxicity; gene therapy; Pegylated bovine ADA; Severe combined immunodeficiency

Indexed keywords

ADENOSINE DEAMINASE; AGENTS AFFECTING METABOLISM; AUTOANTIBODY; COMPLEMENT FACTOR H; CREATININE; ECULIZUMAB; LENTIVIRUS VECTOR; PEGYLATED BOVINE ADENOSINE DEAMINASE; RETROVIRUS VECTOR; UNCLASSIFIED DRUG;

ACUTE KIDNEY FAILURE; ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; ASSISTED VENTILATION; AUTOPSY; BLOOD CULTURE; CASE REPORT; CHEST INFECTION; CHILD; CLINICAL FEATURE; DETERIORATION; DETOXIFICATION; DIARRHEA; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME REPLACEMENT; ERYTHROCYTE; FEMALE; FEVER; FUNGEMIA; GENETIC ANALYSIS; GLOMERULUS FILTRATION RATE; HEMOFILTRATION; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPOALBUMINEMIA; IMMUNE DEFICIENCY; INFANT; INTENSIVE CARE; KIDNEY FAILURE; KIDNEY FUNCTION; LETHARGY; LOWER RESPIRATORY TRACT INFECTION; LYMPHOCYTOPENIA; MALE; MEDICAL HISTORY; MILD RENAL IMPAIRMENT; MULTIPLE ORGAN FAILURE; NEPHRITIS; PERITONEAL DIALYSIS; PLASMAPHERESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RECURRENT DISEASE; RETROSPECTIVE STUDY; SALVAGE THERAPY; SEPSIS; SEVERE COMBINED IMMUNODEFICIENCY; SIBLING; STREPTOCOCCUS PNEUMONIAE; THORAX RADIOGRAPHY; VIRAL GENE THERAPY; VOMITING; AGAMMAGLOBULINEMIA; ATYPICAL HEMOLYTIC UREMIC SYNDROME; DEFICIENCY; DIFFERENTIAL DIAGNOSIS; FATALITY; GENETICS; GENOTYPE; MUTATION;

ADENOSINE DEAMINASE; AGAMMAGLOBULINEMIA; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84929842030     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0158-0     Document Type: Article

References (46)

1. Sauer AV, Brigida I, Carriglio N, Aiuti A. Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. Front Immunol. 2012;3:265.
2. Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet. 1972;2(7786):1067–9.
3. Hirschhorn R, Ratech H. Isozymes of adenosine deaminase. Isozymes Curr Top Biol Med Res. 1980;4:131–57.
4. Hirschhorn R, Nicknam MN, Eng F, Yang DR, Borkowsky W. Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency. J Immunol. 1992;149(9):3107–12.
5. Apasov SG, Blackburn MR, Kellems RE, Smith PT, Sitkovsky MV. Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling. J Clin Invest. 2001;108(1):131–41.
6. Van De Wiele CJ, Vaughn JG, Blackburn MR, Ledent CA, Jacobson M, Jiang H, et al. Adenosine kinase inhibition promotes survival of fetal adenosine deaminase-deficient thymocytes by blocking dATP accumulation. J Clin Invest. 2002;110(3):395–402.
7. Van De Wiele CJ, Joachims ML, Fesler AM, Vaughn JG, Blackburn MR, McGee ST, et al. Further differentiation of murine double-positive thymocytes is inhibited in adenosine deaminase-deficient murine fetal thymic organ culture. J Immunol. 2006;176(10):5925–33.
8. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How I treat ADA deficiency. Blood. 2009;114(17):3524–32.
9. Ozsahin H, Arredondo-Vega FX, Santisteban I, Fuhrer H, Tuchschmid P, Jochum W, et al. Adenosine deaminase deficiency in adults. Blood. 1997;89(8):2849–55.
10. Bollinger ME, Arredondo-Vega FX, Santisteban I, Schwarz K, Hershfield MS, Lederman HM. Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. N Engl J Med. 1996;334(21):1367–71.
11. Ratech H, Hirschhorn R, Greco MA. Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. II. Thymus, spleen, lymph node, and gastrointestinal tract lymphoid tissue alterations. Am J Pathol. 1989;135(6):1145–56.
12. Sauer AV, Mrak E, Hernandez RJ, Zacchi E, Cavani F, Casiraghi M, et al. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency. Blood. 2009;114(15):3216–26.
13. Booth C, Algar VE, Xu-Bayford J, Fairbanks L, Owens C, Gaspar HB. Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. J Clin Immunol. 2012;32(3):449–53.
14. Ratech H, Greco MA, Gallo G, Rimoin DL, Kamino H, Hirschhorn R. Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol. 1985;120(1):157–69.
15. Cederbaum SD, Kaitila I, Rimoin DL, Stiehm ER. The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J Pediatr. 1976;89(5):737–42.
16. Albuquerque W, Gaspar HB. Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. J Pediatr. 2004;144(2):278–80.
17. Hirschhorn R, Paageorgiou PS, Kesarwala HH, Taft LT. Amerioration of neurologic abnormalities after “enzyme replacement” in adenosine deaminase deficiency. N Engl J Med. 1980;303(7):377–80.
18. Honig M, Albert MH, Schulz A, Sparber-Sauer M, Schutz C, Belohradsky B, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109(8):3595–602.
19. Titman P, Pink E, Skucek E, O’Hanlon K, Cole TJ, Gaspar J, et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood. 2008;112(9):3907–13.
20. Grunebaum E, Cutz E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol. 2012;129(6):1588–93.
21. Manson D, Diamond L, Oudjhane K, Hussain FB, Roifman C, Grunebaum E. Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life. Pediatr Radiol. 2013;43(5):589–92.
22. Wakamiya M, Blackburn MR, Jurecic R, McArthur MJ, Geske RS, Cartwright Jr J, et al. Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in mice. Proc Natl Acad Sci U S A. 1995;92(9):3673–7.
23. Gaspar HB. Bone marrow transplantation and alternatives for adenosine deaminase deficiency. Immunol Allergy Clin N Am. 2010;30(2):221–36.
24. Taylor CM, Machin S, Wigmore SJ, Goodship TH. Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. Br J Haematol. 2010;148(1):37–47.
25. Constantinescu AR, Bitzan M, Weiss LS, Christen E, Kaplan BS, Cnaan A, et al. Non-enteropathic hemolytic uremic syndrome: causes and short-term course. Am J Kidney Dis. 2004;43(6):976–82.
26. Besbas N, Karpman D, Landau D, Loirat C, Proesmans W, Remuzzi G, et al. A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kidney Int. 2006;70(3):423–31.
27. Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(17):1676–87.
28. Jokiranta TS, Zipfel PF, Fremeaux-Bacchi V, Taylor CM, Goodship TJ, Noris M. Where next with atypical hemolytic uremic syndrome? Mol Immunol. 2007;44(16):3889–900.
29. Hirt-Minkowski P, Dickenmann M, Schifferli JA. Atypical hemolytic uremic syndrome: update on the complement system and what is new. Nephron Clin Pract. 2010;114(4):c219–35.
30. Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, et al. Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2014;25(1):55–64.
31. Bu F, Borsa N, Gianluigi A, Smith RJ. Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects. Clin Dev Immunol. 2012;2012:370426.
32. Rees L. Atypical HUS: time to take stock of current guidelines and outcome measures? Pediatr Nephrol. 2013;28(5):675–7.
33. Loirat C, Fremeaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011;6:60.
34. Zimmerhackl LB, Besbas N, Jungraithmayr T, Van de Kar N, Karch H, Karpman D, et al. Epidemiology, clinical presentation, and pathophysiology of atypical and recurrent hemolytic uremic syndrome. Semin Thromb Hemost. 2006;32(2):113–20.
35. Migchielsen AA, Breuer ML, van Roon MA, te Riele H, Zurcher C, Ossendorp F, et al. Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat Genet. 1995;10(3):279–87.
36. Churchill PC, Bidani AK. Hypothesis: adenosine mediates hemodynamic changes in renal failure. Med Hypotheses. 1982;8(3):275–85.
37. Fredholm BB. Adenosine, an endogenous distress signal, modulates tissue damage and repair. Cell Death Differ. 2007;14(7):1315–23.
38. Loirat C, Noris M, Fremeaux-Bacchi V. Complement and the atypical hemolytic uremic syndrome in children. Pediatr Nephrol. 2008;23(11):1957–72.
39. Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5(10):1844–59.
40. Printza N, Sapountzi E, Dotis J, Papachristou F. Hemolytic uremic syndrome related to cryptosporidium infection in an immunocompetent child. Pediatr Int. 2013;55(6):788–90.
41. Nester CM, Thomas CP. Atypical hemolytic uremic syndrome: what is it, how is it diagnosed, and how is it treated? Hematol Am Soc Hematol Educ Program. 2012;2012:617–25.
42. Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat. 2010;31(6):E1445–60.
43. Guigonis V, Fremeaux-Bacchi V, Giraudier S, Favier R, Borderie D, Massy Z, et al. Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. Am J Kidney Dis. 2005;45(3):588–95.
44. Salmon JE, Heuser C, Triebwasser M, Liszewski MK, Kavanagh D, Roumenina L, et al. Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort. PLoS Med. 2011;8(3):e1001013.
45. Dragon-Durey MA, Loirat C, Cloarec S, Macher MA, Blouin J, Nivet H, et al. Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16(2):555–63.
46. Skerka C, Jozsi M, Zipfel PF, Dragon-Durey MA, Fremeaux-Bacchi V. Autoantibodies in haemolytic uraemic syndrome (HUS). Thromb Haemost. 2009;101(2):227–32.