Gastrointestinal and hepatic manifestations of primary immune deficiency diseases

Saudi Journal of Gastroenterology

Volumn 16, Issue 2, 2010, Pages 66-74

  Al Muhsen, Saleh ^a  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

Chronic granulomatous disease; Colitis; Common variable immunodeficiency; Gastrointestinal manifestation; Hepatic involvement; Primary immune deficiency diseases; Saudi Arabia

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ACHLORHYDRIA; ANGIONEUROTIC EDEMA; ATROPHIC GASTRITIS; BLAU SYNDROME; BURKHOLDERIA CEPACIA; COLITIS; COMMON VARIABLE IMMUNODEFICIENCY; ENTERITIS; GIARDIA LAMBLIA; GRANULOMATOSIS; HEREDITARY PERIODIC FEVER; HUMAN; HYPER IGM SYNDROME; IPEX SYNDROME; NODULAR LYMPHOMATOSIS; PRIMARY IMMUNE RESPONSE; PSEUDOMONAS AERUGINOSA; QUALITY OF LIFE; REVIEW; SAUDI ARABIA; STAPHYLOCOCCUS AUREUS; STOMACH ADENOCARCINOMA; UPREGULATION;

AGE OF ONSET; COMMON VARIABLE IMMUNODEFICIENCY; COMORBIDITY; FEMALE; GASTROINTESTINAL DISEASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LIVER DISEASES; MALE; PREVALENCE; PROGNOSIS; RISK ASSESSMENT; SAUDI ARABIA; SEVERITY OF ILLNESS INDEX; SURVIVAL RATE;

EID: 77950525208     PISSN: 13193767     EISSN: 19984049     Source Type: Journal    
DOI: 10.4103/1319-3767.61230     Document Type: Review

References (83)

1. Woroniecka M, Ballow M. Office evaluation of children with recurrent infection. Pediatr Clin North Am 2000;47:1211-1224 (Pubitemid 32005026)
2. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, et al. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007;120:776-794
3. Bonilla FA, Geha RS.12. Primary immunodeficiency diseases. J Allergy Clin Immunol 2003;111:S571-81.
4. Yarmohammadi H, Estrella L, Doucette J, Cunningham-Rundles C. Recognizing primary immune deficiency in clinical practice. Clin Vaccine Immunol 2006;13:329-332
5. Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol 2006;26:519-532 (Pubitemid 44764262)
6. Al-Herz W. Primary immunodeficiency disorders in Kuwait: First report from Kuwait National Primary Immunodeficiency Registry (2004--2006). J Clin Immunol 2008;28:186-193
7. Suliaman FA, Harfi H. High incidence of severe combined immune deficiency in the Eastern Province of Saudi Arabia. Pediatr Asthma Allergy Immunol 2006;19:14-18
8. Suliaman FA, Sheikh S, Almuhsen S, Alsmadi O. Epidemiology of chronic granulomatous disease of childhood in eastern province, Saudi Arabia. Pediatr Asthma Allergy Immunol 2009;22:21-26
9. El Mouzan MI, Al Salloum AA, Al Herbish AS, Qurachi MM, Al Omar AA. Consanguinity and major genetic disorders in Saudi children: A community-based cross-sectional study. Ann Saudi Med 2008;28:169-173
10. Koc I. Prevalence and sociodemographic correlates of consanguineous marriages in Turkey. J Biosoc Sci 2008;40:137-148 (Pubitemid 350146565)
11. Rezaei N, Pourpak Z, Aghamohammadi A, Farhoudi A, Movahedi M, Gharagozlou M, et al. Consanguinity in primary immunodeficiency disorders: The report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol 2006;56:145-151
12. Hamamy HA, Masri AT, Al-Hadidy AM, Ajlouni KM. Consanguinity and genetic disorders: Profile from Jordan. Saudi Med J 2007;28:1015-1017
13. Kanaan ZM, Mahfouz R, Tamim H. The prevalence of consanguineous marriages in an underserved area in Lebanon and its association with congenital anomalies. Genet Test 2008;12:367-372
14. McCabe RP. Gastrointestinal manifestations of non-AIDS immunodeficiency. Curr Treat Options Gastroenterol 2002;5:17-25.
15. Agarwal S, Mayer L. Gastrointestinal manifestations in primary immune disorders. Inflamm Bowel Dis 2009;16:703-711
16. Bridges RA, Berendes H, Good RA. A fatal granulomatous disease of childhood: The clinical, pathological, and laboratory features of a new syndrome. AMA J Dis Child 1959;97:387-408.
17. Ochs HD, Edvard SC, Puck JM. Primary immunodeficiency diseases: A molecular and genetic approach. New York, Oxford: Oxford University Press; 1999.
18. Landing BH, Shirkey HS. A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes. Pediatrics 1957;20:431-438
19. Johnston RB Jr. Clinical aspects of chronic granulomatous disease. Curr Opin Hematol 2001;8:17-22. (Pubitemid 32047657)
20. Forehand JR, Curnutte JT, Johnston RB Jr. Inherited disorders of phagocytic killing. In: Scriver CR, Sly WS, Valle D, editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 1995. p. 3995-4026.
21. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 2000;79:170-200. (Pubitemid 30327531)
22. Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, et al. DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A 1986;83:3398-3401 (Pubitemid 16043044)
23. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, et al. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 1996;87:1663-1681 (Pubitemid 26068882)
24. Cross AR, Noack D, Rae J, Curnutte JT, Heyworth PG. Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (first update). Blood Cells Mol Dis 2000;26:561-565 (Pubitemid 32037418)
25. Heyworth PG, Curnutte JT, Rae J, Noack D, Roos D, van Koppen E, et al. Hematologically important mutations: X-linked chronic granulomatous disease (second update). Blood Cells Mol Dis 2001;27:16-26. (Pubitemid 32299750)
26. Matute JD, Arias AA, Wright NA, Wrobel I, Waterhouse CC, Li XJ, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity. Blood 2009;114:3309-3315 .
27. Curnutte JT. Chronic granulomatous disease: The solving of a clinical riddle at the molecular level. Clin Immunol Immunopathol 1993;67:S2-15. (Pubitemid 23195990)
28. Gallin JI, Buescher ES, Seligmann BE, Nath J, Gaither T, Katz P. NIH conference: Recent advances in chronic granulomatous disease. Ann Intern Med 1983;99:657-674
29. Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease: Report on a national registry of 368 patients. Medicine (Baltimore) 2000;79:155-169 (Pubitemid 30327530)
30. Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 2004;114:462-468 (Pubitemid 39006676)
31. Barton LL, Moussa SL, Villar RG, Hulett RL. Gastrointestinal complications of chronic granulomatous disease: Case report and literature review. Clin Pediatr (Phila) 1998;37:231-236 (Pubitemid 28183281)
32. Huang A, Abbasakoor F, Vaizey CJ. Gastrointestinal manifestations of chronic granulomatous disease. Colorectal Dis 2006;8:637-644 (Pubitemid 44363585)
33. Al-Muhsen SA, Al-Saud B, Al-Ghonaium A, Al-Mousa H, Al-Dhekri H, Al- Gazlan S, et al, editor. Molecular and clinical profile in a large cohort with chronic granulomatous diseases from Saudi Arabia. Keystone symposium on Human Immunology and Immunodeficiencies. Beijing, China: 2009 May 12-17 (Oral poster).
34. Movahedi M, Aghamohammadi A, Rezaei N, Farhoudi A, Pourpak Z, Moin M, et al. Gastrointestinal manifestations of patients with chronic granulomatous disease. Iran J Allergy Asthma Immunol 2004;3:83-87
35. Johnson FE, Humbert JR, Kuzela DC, Todd JK, Lilly JR. Gastric outlet obstruction due to X-linked chronic granulomatous disease. Surgery 1975;78:217-223
36. Marks DJ, Miyagi K, Rahman FZ, Novelli M, Bloom SL, Segal AW. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease. Am J Gastroenterol 2009;104:117-124
37. Schappi MG, Klein NJ, Lindley KJ, Rampling D, Smith VV, Goldblatt D, et al. The nature of colitis in chronic granulomatous disease. J Pediatr Gastroenterol Nutr 2003;36:623-631 (Pubitemid 39274588)
38. Hussain N, Feld JJ, Kleiner DE, Hoofnagle JH, Garcia-Eulate R, Ahlawat S, et al. Hepatic abnormalities in patients with chronic granulomatous disease. Hepatology 2007;45:675-683 (Pubitemid 46450619)
39. Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C. Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 1989;114:555-560 (Pubitemid 19098285)
40. Gallin JI, Alling DW, Malech HL, Wesley R, Koziol D, Marciano B, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med 2003;348:2416-2422 (Pubitemid 36682820)
41. Margolis DM, Melnick DA, Alling DW, Gallin JI. Trimethoprimsulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 1990;162:723-726 (Pubitemid 20266166)
42. Mouy R, Veber F, Blanche S, Donadieu J, Brauner R, Levron JC, et al. Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr 1994;125:998-1003. (Pubitemid 24379140)
43. The International Chronic Granulomatous Disease Cooperative Study Group. A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med 1991;324:509-516
44. Marciano BE, Wesley R, de Carlo ES, Anderson VL, Barnhart LA, Darnell D, et al. Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin Infect Dis 2004;39:692-699 (Pubitemid 39180442)
45. Seger RA, Gungor T, Belohradsky BH, Blanche S, Bordigoni P, Di Bartolomeo P, et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: A survey of the European experience, 1985-2000. Blood 2002;100:4344-4350 (Pubitemid 35429672)
46. Gungor T, Halter J, Klink A, Junge S, Stumpe KD, Seger R, et al. Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients. Transplantation 2005;79:1596-1606 (Pubitemid 40847593)
47. Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 2006;12:401-409
48. Kalha I, Sellin JH. Common variable immunodeficiency and the gastrointestinal tract. Curr Gastroenterol Rep 2004;6:377-383 (Pubitemid 39480909)
49. Khodadad A, Aghamohammadi A, Parvaneh N, Rezaei N, Mahjoob F, Bashashati M, et al. Gastrointestinal manifestations in patients with common variable immunodeficiency. Dig Dis Sci 2007;52:2977-2983 (Pubitemid 47512541)
50. Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005;37:829-834 (Pubitemid 41077108)
51. Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003;4:261-268 (Pubitemid 36322136)
52. Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G, et al. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: A new approach to classify a heterogeneous disease. Blood 2002;99:1544-1551 (Pubitemid 34533024)
53. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: Clinical and immunological features of 248 patients. Clin Immunol 1999;92:34-48. (Pubitemid 29315984)
54. Lai Ping So A, Mayer L. Gastrointestinal manifestations of primary immunodeficiency disorders. Semin Gastrointest Dis 1997;8:22-32. (Pubitemid 27045982)
55. Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): A clinicopathologic study and review. Am J Surg Pathol 2007;31:1800-1812 (Pubitemid 350175807)
56. Zullo A, Romiti A, Rinaldi V, Vecchione A, Tomao S, Aiuti F, et al. Gastric pathology in patients with common variable immunodeficiency. Gut 1999;45:77-81. (Pubitemid 29301849)
57. Washington K, Stenzel TT, Buckley RH, Gottfried MR. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol 1996;20:1240-1252 (Pubitemid 26336849)
58. Kinlen LJ, Webster AD, Bird AG, Haile R, Peto J, Soothill JF, et al. Prospective study of cancer in patients with hypogammaglobulinaemia. Lancet 1985;1:263-266 (Pubitemid 15130644)
59. Chiaramonte C, Glick SN. Nodular lymphoid hyperplasia of the small bowel complicated by jejunal lymphoma in a patient with common variable immune deficiency syndrome. AJR Am J Roentgenol 1994;163:1118-1119 (Pubitemid 24355703)
60. Erdos M, Durandy A, Marodi L. Genetically acquired class-switch recombination defects: The multi-faced hyper-IgM syndrome. Immunol Lett 2005;97:1-6. (Pubitemid 40038849)
61. Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993;259:990-993 (Pubitemid 23080672)
62. DiSanto JP, Bonnefoy JY, Gauchat JF, Fischer A, de Saint Basile G. CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. Nature 1993;361:541-543 (Pubitemid 23055616)
63. Korthauer U, Graf D, Mages HW, Briere F, Padayachee M, Malcolm S, et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 1993;361:539-541 (Pubitemid 23055615)
64. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci USA 2001;98:12614-12619 (Pubitemid 33019994)
65. Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001;2:223-228 (Pubitemid 33705998)
66. Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 2000;102:565-575
67. Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol 2003;4:1023-1028 (Pubitemid 37265924)
68. Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997;131:47-54. (Pubitemid 27498308)
69. Quartier P, Bustamante J, Sanal O, Plebani A, Debre M, Deville A, et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol 2004;110:22-29 (Pubitemid 38177417)
70. Debray D, Pariente D, Urvoas E, Hadchouel M, Bernard O. Sclerosing cholangitis in children. J Pediatr 1994;124:49-56. (Pubitemid 24027286)
71. Hayward AR, Levy J, Facchetti F, Notarangelo L, Ochs HD, Etzioni A, et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol 1997;158:977-983 (Pubitemid 127492679)
72. Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 2001;27:18-20. (Pubitemid 32044512)
73. Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001;27:20-21 (Pubitemid 32044513)
74. Myers AK, Perroni L, Costigan C, Reardon W. Clinical and molecular findings in IPEX syndrome. Arch Dis Child 2006;91:63-64 (Pubitemid 43059178)
75. Gambineri E, Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol 2003;15:430-435 (Pubitemid 36774255)
76. Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002;39:537-545 (Pubitemid 34864555)
77. Bennett CL, Ochs HD. IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr 2001;13:533-538
78. Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 2001;344:1758-1762 (Pubitemid 32497030)
79. Casanova JL, Abel L. Revisiting Crohn's disease as a primary immunodeficiency of macrophages. J Exp Med 2009;206:1839-1843
80. Marks DJ, Rahman FZ, Sewell GW, Segal AW. Crohn's disease: an immune deficiency state. Clin Rev Allergy Immunol 2010;38:20-31.
81. Smith AM, Rahman FZ, Hayee B, Graham SJ, Marks DJ, Sewell GW, et al. Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease. J Exp Med 2009;206:1883-1897
82. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603. (Pubitemid 32531408)
83. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-606 (Pubitemid 32531409)