Primary immunodeficiencies presenting with autoimmune cytopenias in adults;Déficits immunitaires primitifs et cytopénies auto-immunes de l'adulte

Revue de Medecine Interne

Volumn 34, Issue 3, 2013, Pages 148-153

  Seve P ^a,b   Broussolle, C ^a   Pavic, M ^c  

^a CROIX ROUSSE HOSPITAL   (France)

^b UNIVERSITÉ DE LYON   (France)

^c HIA Desgenettes   (France)

Author keywords

Autoimmune cytopenias; Autoimmune hemolytic anemia; Autoimmune lymphoproliferative syndrome; Common variable immunodeficiencies; Thrombocytopenic purpura

Indexed keywords

CORTICOSTEROID; IMMUNOGLOBULIN; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; RITUXIMAB;

AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; AUTOIMMUNITY; CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; CYTOPENIA; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG EFFICACY; DRUG MEGADOSE; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; INFECTION RISK; INFECTION SENSITIVITY; LYMPHOMA; MEDICAL DECISION MAKING; PHENOTYPE; SHORT SURVEY; SPLENECTOMY; SPLENOMEGALY; TREATMENT CONTRAINDICATION;

ADRENAL CORTEX HORMONES; ANEMIA, HEMOLYTIC, AUTOIMMUNE; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; COMMON VARIABLE IMMUNODEFICIENCY; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; IMMUNOSUPPRESSIVE AGENTS; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC;

EID: 84874309369     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/j.revmed.2012.05.007     Document Type: Short Survey

References (49)

1. Notarangelo LD. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematology Am Soc Hematol Educ Program 2009:139-43.
2. Dupuis-Girod S., Medioni J., Haddad E., Quartier P., Cavazzana-Calvo M., Le Deist F., et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 2003, 111:622-627.
3. Winkelstein J.A., Marino M.C., Ochs H., Fuleihan R., Scholl P.R., Geha R., et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003, 82:373-384.
4. Tarr P.E., Sneller M.C., Mechanic L.J., Economides A., Eger C.M., Strober W., et al. Infections in patients with immunodeficiency with thymoma (Good syndrome). Report of 5 cases and review of the literature. Medicine (Baltimore) 2001, 80:123-133.
5. Zonios D.I., Falloon J., Bennett J.E., Shaw P.A., Chaitt D., Baseler M.W., et al. Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors. Blood 2008, 112:287-294.
6. Bussone G., Mouthon L. Autoimmune manifestations in primary immune deficiencies. Autoimmun Rev 2009, 8:332-336.
7. Lopes-da-Silva S., Rizzo L.V. Autoimmunity in common variable immunodeficiency. J Clin Immunol 2008, 28:S46-S55.
8. Conley M.E., Notarangelo L.D., Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999, 93:190-197.
9. Mouillot G., Carmagnat M., Gerard L., Garnier J.L., Fieschi C., Vince N., et al. B-cell and T-cell phenotypes in CVID patients correlate with the clinical phenotype of the disease. J Clin Immunol 2010, 30:746-755.
10. Boileau J., Mouillot G., Gerard L., e Carmagnat M., Rabian C., Oksenhendler E., et al. Autoimmunity in common variable immunodeficiency: correlation with lymphocyte phenotype in the French DEFI study. J Autoimmun 2011, 36:25-32.
11. Zhang L., Radigan L., Salzer U., Behrens T.W., Grimbacher B., Diaz G., et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol 2007, 120:1178-1185.
12. Orange J.S., Glessner J.T., Resnick E., Sullivan K.E., Lucas M., Ferry B., et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol 2011, 127:1360-1367. [e6].
13. Michel M., Chanet V., Galicier L., Ruivard M., Levy Y., Hermine O., et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004, 83:254-263.
14. Pavic M., Seve P., Malcus C., Sarrot-Reynault F., Peyramond D., Debourdeau P., et al. Common variable immunodeficiency with autoimmune manifestations: study of nine cases; interest of a peripheral B-cell compartment analysis in seven patients. Rev Med Interne 2005, 26:95-102.
15. Seve P., Bourdillon L., Sarrot-Reynauld F., Ruivard M., Jaussaud R., Bouhour D., et al. Autoimmune hemolytic anemia and common variable immunodeficiency: a case-control study of 18 patients. Medicine (Baltimore) 2008, 87:177-184.
16. Michel M., Chanet V., Dechartres A., Morin A.S., Piette J.C., Cirasino L., et al. The spectrum of Evans syndrome in adults: new insight into the disease based on the analysis of 68 cases. Blood 2009, 114:3167-3172.
17. Wang J., Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005, 25:57-62.
18. Seve P., Philippe P., Dufour J.F., Broussolle C., Michel M. Autoimmune hemolytic anemia: classification and therapeutic approaches. Expert Rev Hematol 2008, 1:189-204.
19. Santé HAS. Protocole national de diagnostic et de soins (PNDS) ALD no 2 - Purpura thrombopénique immunologique de l'enfant et de l'adulte. 2009.
20. Al-Ahmad M., Al-Rasheed M., Al-Muhani A. Successful use of rituximab in refractory idiopathic thrombocytopenic purpura in a patient with common variable immunodeficiency. J Investig Allergol Clin Immunol 2010, 20:259-262.
21. Kim J.J., Thrasher A.J., Jones A.M., Davies E.G., Cale C.M. Rituximab for the treatment of autoimmune cytopenias in children with immune deficiency. Br J Haematol 2007, 138:94-96.
22. Wakim M., Shah A., Arndt P.A., Garratty G., Weinberg K., Hofstra T., et al. Successful anti-CD20 monoclonal antibody treatment of severe autoimmune hemolytic anemia due to warm reactive IgM autoantibody in a child with common variable immunodeficiency. Am J Hematol 2004, 76:152-155.
23. Mahevas M., Le Page L., Salle V., Cevallos R., Smail A., Duhaut P., et al. Efficiency of rituximab in the treatment of autoimmune thrombocytopenic purpura associated with common variable immunodeficiency. Am J Hematol 2006, 81:645-646.
24. Gobert D., Bussel J.B., Cunningham-Rundles C., Galicier L., Dechartres A., Berezne A., et al. Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients. Br J Haematol 2011, 155:498-508.
25. Rao V.K., Oliveira J.B. How I treat autoimmune lymphoproliferative syndrome. Blood 2011, 118:5741-5751.
26. Lenardo M.J., Oliveira J.B., Zheng L., Rao V.K. ALPS-ten lessons from an international workshop on a genetic disease of apoptosis. Immunity 2010, 32:291-295.
27. Canale V.C., Smith C.H. Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr 1967, 70:891-899.
28. Sneller M.C., Straus S.E., Jaffe E.S., Jaffe J.S., Fleisher T.A., Stetler-Stevenson M., et al. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992, 90:334-341.
29. Rieux-Laucat F., Le Deist F., Hivroz C., Roberts I.A., Debatin K.M., Fischer A., et al. Mutations in FAS associated with human lymphoproliferative syndrome and autoimmunity. Science 1995, 268:1347-1349.
30. Dowdell K.C., Niemela J.E., Price S., Davis J., Hornung R.L., Oliveira J.B., et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood 2010, 115:5164-5169.
31. Magerus-Chatinet A., Neven B., Stolzenberg M.C., Daussy C., Arkwright P.D., Lanzarotti N., et al. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest 2011, 121:106-112.
32. Oliveira J.B., Bleesing J.J., Dianzani U., Fleisher T.A., Jaffe E.S., Lenardo M.J., et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 2010, 116:e35-e40.
33. Magerus-Chatinet A., Stolzenberg M.C., Loffredo M.S., Neven B., Schaffner C., Ducrot N., et al. FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T-cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood 2009, 113:3027-3030.
34. Neven B., Magerus-Chatinet A., Florkin B., Gobert D., Lambotte O., De Somer L., et al. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood 2011, 118:4798-4807.
35. Lambotte O., Neven B., Galicier L., Schleinitz N., Hermine O., Mahlaoui N., et al. Syndrome lymphoprolifératif auto-immun chez l'adulte : une cause rare mais sous-diagnostiquée de cytopénies auto-immunes. Rev Med Interne 2010, 31S:400.
36. Desai N.K., Morkhandikar S., Bajpai S., Pazare A.R. Autoimmune lymphoproliferative disorder in an adult patient. J Postgrad Med 2011, 57:131-133.
37. Deutsch M., Tsopanou E., Dourakis S.P. The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood. Clin Rheumatol 2004, 23:43-44.
38. Straus S.E., Sneller M., Lenardo M.J., Puck J.M., Strober W. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med 1999, 130:591-601.
39. Seif A.E., Manno C.S., Sheen C., Grupp S.A., Teachey D.T. Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. Blood 2010, 115:2142-2145.
40. Bleesing J.J., Straus S.E., Fleisher T.A. Autoimmune lymphoproliferative syndrome. A human disorder of abnormal lymphocyte survival. Pediatr Clin North Am 2000, 47:1291-1310.
41. Teachey D.T., Seif A.E., Grupp S.A. Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). Br J Haematol 2009, 148:205-216.
42. Sneller M.C., Wang J., Dale J.K., et al. Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 1997, 89:1341-1348.
43. Rao V.K., Dugan F., Dale J.K., Davis J., Tretler J., Hurley J.K., et al. Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol 2005, 129:534-538.
44. Kossiva L., Theodoridou M., Mostrou G., Vrachnou E., Le Deist F., Rieux-Laucat F., et al. Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome. J Pediatr Hematol Oncol 2006, 28:824-826.
45. Janic M.D., Brasanac C.D., Jankovic J.S., Dokmanovic B.L., Krstovski R.N., Kraguljac Kurtovic J.N. Rapid regression of lymphadenopathy upon rapamycin treatment in a child with autoimmune lymphoproliferative syndrome. Pediatr Blood Cancer 2009, 53:1117-1119.
46. Teachey D.T., Greiner R., Seif A., et al. Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome. Br J Haematol 2009, 145:101-106.
47. Straus S.E., Jaffe E.S., Puck J.M., Dale J.K., Elkon K.B., Rosen-Wolff, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline FAS mutations and defective lymphocyte apoptosis. Blood 2001, 98:194-200.
48. Rao V.K., Price S., Perkins K., Aldridge P., Tretler J., Davis J., et al. Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer 2009, 52:847-852.
49. Rensing-Ehl A., Warnatz K., Fuchs S., Schlesier M., Salzer U., Draeger R., et al. Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency. Clin Immunol 2010, 137:357-365.