Immunodeficiency Diseases with Rheumatic Manifestations

Pediatric Clinics of North America

Volumn 59, Issue 2, 2012, Pages 493-507

  Torgerson, Troy R ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Arthritis; Autoimmunity; Immune dysregulation; Immunodeficiency; Lupus; Vasculitis

Indexed keywords

ADAPTIVE IMMUNITY; ANTIBODY PRODUCTION; ARTHRITIS; ARTHROPATHY; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNITY; B LYMPHOCYTE; CD4+ T LYMPHOCYTE; COMPLEMENT DEFICIENCY; COMPLEMENT SYSTEM; DISCOID LUPUS ERYTHEMATOSUS; ENTERITIS; ENTEROPATHY; HEMOLYTIC UREMIC SYNDROME; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNE DEFICIENCY; IMMUNE SYSTEM; IMMUNOCOMPETENT CELL; IMMUNOGLOBULIN A DEFICIENCY; INCIDENCE; INNATE IMMUNITY; LABORATORY TEST; LUPUS ERYTHEMATOSUS NEPHRITIS; LUPUS LIKE SYNDROME; PHAGOCYTE; PHAGOCYTE DYSFUNCTION; PHYSICAL EXAMINATION; PREVALENCE; REVIEW; RHEUMATIC DISEASE; SCREENING TEST; SYSTEMIC LUPUS ERYTHEMATOSUS; T LYMPHOCYTE;

ADAPTIVE IMMUNITY; AUTOIMMUNE DISEASES; HUMANS; IMMUNITY, INNATE; IMMUNOLOGIC DEFICIENCY SYNDROMES; LUPUS ERYTHEMATOSUS, DISCOID; LUPUS ERYTHEMATOSUS, SYSTEMIC; RHEUMATIC DISEASES; UNITED STATES;

EID: 84860534160     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2012.03.010     Document Type: Review

References (38)

1. Boyle J.M., Buckley R.H. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007, 27:497-502.
2. Clark J.A., Callicoat P.A., Brenner N.A., et al. Selective IgA deficiency in blood donors. Am J Clin Pathol 1983, 80:210-213.
3. Cunningham-Rundles C., Brandeis W.E., Pudifin D.J., et al. Autoimmunity in selective IgA deficiency: relationship to anti-bovine protein antibodies, circulating immune complexes and clinical disease. Clin Exp Immunol 1981, 45:299-304.
4. Edwards E., Razvi S., Cunningham-Rundles C. IgA deficiency: clinical correlates and responses to pneumococcal vaccine. Clin Immunol 2004, 111:93-97.
5. Jacob C.M., Pastorino A.C., Fahl K., et al. Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol 2008, 28(Suppl 1):S56-S61.
6. Smith S., Sweetser M.T., Wilson C.B. The immunocompromised host. Pediatr Rev 1996, 17:435-440.
7. Frank M.M. Complement deficiencies. Pediatr Clin North Am 2000, 47:1339-1354.
8. Roumenina L.T., Loirat C., Dragon-Durey M.A., et al. Alternative complement pathway assessment in patients with atypical HUS. J Immunol Methods 2011, 365:8-26.
9. Pickering M.C., Botto M., Taylor P.R., et al. Systemic lupus erythematosus, complement deficiency, and apoptosis. Adv Immunol 2000, 76:227-324.
10. Sullivan K.E. Complement deficiency and autoimmunity. Curr Opin Pediatr 1998, 10:600-606.
11. Schulze C., Munoz L.E., Franz S., et al. Clearance deficiency-a potential link between infections and autoimmunity. Autoimmun Rev 2008, 8:5-8.
12. Winkelstein J.A., Marino M.C., Johnston R.B., et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 2000, 79:155-169.
13. Kragballe K., Borregaard N., Brandrup F., et al. Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease. Clin Exp Immunol 1981, 43:390-398.
14. Sillevis Smitt J.H., Weening R.S., Krieg S.R., et al. Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease. Br J Dermatol 1990, 122:643-650.
15. Cale C.M., Morton L., Goldblatt D. Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 2007, 148:79-84.
16. Sanford A.N., Suriano A.R., Herche D., et al. Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. Rheumatology (Oxford) 2006, 45:178-181.
17. Marciano B.E., Rosenzweig S.D., Kleiner D.E., et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 2004, 114:462-468.
18. Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol 2002, 109:581-591.
19. Cooper M.A., Pommering T.L., Koranyi K. Primary immunodeficiencies. Am Fam Physician 2003, 68:2001-2008.
20. Woroniecka M., Ballow M. Office evaluation of children with recurrent infection. Pediatr Clin North Am 2000, 47:1211-1224.
21. Agarwal S., Cunningham-Rundles C. Autoimmunity in common variable immunodeficiency. Curr Allergy Asthma Rep 2009, 9:347-352.
22. Quinti I., Soresina A., Spadaro G., et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 2007, 27:308-316.
23. Resnick E.S., Moshier E.L., Godbold J.H., et al. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012, 119(7):1650-1657. [Epub 2011 Dec 16].
24. Lee A.H., Levinson A.I., Schumacher H.R. Hypogammaglobulinemia and rheumatic disease. Semin Arthritis Rheum 1993, 22:252-264.
25. Buckley R.H. Primary cellular immunodeficiencies. J Allergy Clin Immunol 2002, 109:747-757.
26. Oliveira J.B., Bleesing J.J., Dianzani U., 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.
27. Gambineri E., Torgerson T.R. Genetic disorders with immune dysregulation. Cell Mol Life Sci 2012, 69:49-58.
28. Ekwall O., Hedstrand H., Grimelius L., et al. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 1998, 352:279-283.
29. Ahonen P., Myllarniemi S., Sipila I., et al. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990, 322:1829-1836.
30. Betterle C., Greggio N.A., Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998, 83:1049-1055.
31. Dupuis-Girod S., Medioni J., Haddad E., et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 2003, 111:e622-e627.
32. Keenan G.F., Sullivan K.E., McDonald-McGinn D.M., et al. Arthritis associated with deletion of 22q11.2: more common than previously suspected. Am J Med Genet 1997, 71:488.
33. Levy J., Espanol-Boren T., Thomas C., et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997, 131:47-54.
34. Sneller M.C., Dale J.K., Straus S.E. Autoimmune lymphoproliferative syndrome. Curr Opin Rheumatol 2003, 15:417-421.
35. Sullivan K.E., McDonald-McGinn D.M., Driscoll D.A., et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 1997, 40:430-436.
36. Stephens J., Cosyns M., Jones M., et al. Liver and bile duct pathology following Cryptosporidium parvum infection of immunodeficient mice. Hepatology 1999, 30:27-35.
37. Wolska-Kusnierz B., Bajer A., Caccio S., et al. Cryptosporidium infection in patients with primary immunodeficiencies. J Pediatr Gastroenterol Nutr 2007, 45:458-464.
38. Muller S.M., Ege M., Pottharst A., et al. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 2001, 98:1847-1851.