Gastrointestinal manifestations of Iranian patients with LRBA deficiency
,
Abstract
Background: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a rare genetic primary immunodeficiency (PID) disease caused by mutation in the LRBA gene. The most important symptoms in patients include autoimmunity, recurrent infections, hypogammaglobulinemia, and enteropathy.
Methods: A total of 19 LRBA patients were enrolled in this longitudinal study. All recorded data for clinical presentation, demographic information, laboratory and gastrointestinal findings were collected.
Results: In this study, 11 females and 8 males (from 16 unrelated families) with LRBA deficiency were evaluated. The most common gastrointestinal symptoms were gastroenteritis, chronic or bloody diarrhea with abdominal pain, vomiting, anorexia, and FTT. The most important pathologic finding was colitis that was seen in 4 patients. Gastritis, esophagitis, gastroesophageal reflux disease, celiac-like disease, and normal upper endoscopy were documented equally in 2 patients. Also seen was enteritis in 3, proctitis, ileitis, and cryptitis in 1, and villous atrophy in 3 of the LRBA patients.
Conclusion: A variety of gastrointestinal conditions may be the most frequent complications in patients with LRBA deficiency.
1. Lopez-Herrera G, Tampella G, Baronio M, Vitali M, Lougaris V, Plebani A, et al. Mutations in LRBA are Associated with a Syndrome of Immune Deficiency and Autoimmunity. Journal of Clinical Immunology. 2012;32(2):363-4.
2. Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. Journal of Allergy and Clinical Immunology. 2016;137(1):223-30.
3. Serwas NK, Kansu A, Santos-Valente E, Kuloglu Z, Demir A, Yaman A, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflammatory bowel diseases. 2015;21(1):40-7.
4. Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, et al. Spectrum of phenotypes associated with mutations in LRBA. Journal of clinical immunology. 2016;36(1):33-45.
5. Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. Journal of Allergy and Clinical Immunology. 2012;130(2):481-8. e2.
6. Lopez-Herrera G, Tampella G, PanHammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. The American Journal of Human Genetics. 2012;90(6):986- 1001.
7. Azizi G, Ziaee V, Tavakol M, Alinia T,Yazdai R, Mohammadi H, et al. Approach to the Management of Autoimmunity in Primary Immunodeficiency. Scandinavian journal of immunology. 2017;85(1):13-29.
8. Tegtmeyer D, Seidl M, Gerner P, Baumann U, Klemann C. IBD due to PID: Inflammatory bowel disease caused by primary immunodeficiencies‐Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. Pediatric Allergy and Immunology. 2017.
9. Bratanič N, Kovač J, Pohar K, Podkrajšek KT, Ihan A, Battelino T, et al. Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. Orphanet journal of rare diseases. 2017;12(1):131.
10. Agarwal S, Mayer L. Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clinical gastroenterology and hepatology. 2013;11(9):1050-63.
11. Aghamohammadi A, Mohammadinejad P, Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. Journal of clinical immunology. 2014;34(4):478-90.
12. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Clinical immunology. 1999;93(3):190-7.
13. Arandi N, Mirshafiey A, Abolhassani H, Jeddi‐Tehrani M, Edalat R, Sadeghi B, et al. Frequency and expression of inhibitory markers of CD4+ CD25+ FOXP3+ regulatory T cells in patients with common variable immunodeficiency. Scandinavian journal of immunology. 2013;77(5):405-12.
14. Yazdani R, Seify R, Ganjalikhani-Hakemi M, Abolhassani H, Eskandari N, Golsaz-Shirazi F, et al. Comparison of various classifications for patients with common variable immunodeficiency (CVID) using measurement of B-cell subsets. Allergologia et immunopathologia. 2017;45(2):183-92.
15. Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, et al. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. The Journal of allergy and clinical immunology. 2012;130(6):1428.
16. Azizi G, Ahmadi M, Abolhassani H, Yazdani R, Mohammadi H, Mirshafiey A, et al. Autoimmunity in Primary Antibody Deficiencies. International archives of allergy and immunology. 2016;171(3-4):180-93.
17. Azizi G, Abolhassani H, Mahdaviani SA, Chavoshzadeh Z, Eshghi P, Yazdani R, et al. Clinical, Immunological, Molecular Analyses and Outcomes of Iranian Patients with LRBA Deficiency: A Longitudinal Study. Pediatric Allergy and Immunology. 2017.
18. Bal SK, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, et al. Multiple Presentations of LRBA Deficiency: a Single-Center Experience. Journal of clinical immunology. 2017;37(8):790-800.19. Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS -responsive beige -like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. The Journal of allergy and clinical immunology. 2012;130(2):481 -8.e2.
20. Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut. 2013;62(12):1795 -805.
2. Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. Journal of Allergy and Clinical Immunology. 2016;137(1):223-30.
3. Serwas NK, Kansu A, Santos-Valente E, Kuloglu Z, Demir A, Yaman A, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflammatory bowel diseases. 2015;21(1):40-7.
4. Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, et al. Spectrum of phenotypes associated with mutations in LRBA. Journal of clinical immunology. 2016;36(1):33-45.
5. Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. Journal of Allergy and Clinical Immunology. 2012;130(2):481-8. e2.
6. Lopez-Herrera G, Tampella G, PanHammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. The American Journal of Human Genetics. 2012;90(6):986- 1001.
7. Azizi G, Ziaee V, Tavakol M, Alinia T,Yazdai R, Mohammadi H, et al. Approach to the Management of Autoimmunity in Primary Immunodeficiency. Scandinavian journal of immunology. 2017;85(1):13-29.
8. Tegtmeyer D, Seidl M, Gerner P, Baumann U, Klemann C. IBD due to PID: Inflammatory bowel disease caused by primary immunodeficiencies‐Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. Pediatric Allergy and Immunology. 2017.
9. Bratanič N, Kovač J, Pohar K, Podkrajšek KT, Ihan A, Battelino T, et al. Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. Orphanet journal of rare diseases. 2017;12(1):131.
10. Agarwal S, Mayer L. Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clinical gastroenterology and hepatology. 2013;11(9):1050-63.
11. Aghamohammadi A, Mohammadinejad P, Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. Journal of clinical immunology. 2014;34(4):478-90.
12. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Clinical immunology. 1999;93(3):190-7.
13. Arandi N, Mirshafiey A, Abolhassani H, Jeddi‐Tehrani M, Edalat R, Sadeghi B, et al. Frequency and expression of inhibitory markers of CD4+ CD25+ FOXP3+ regulatory T cells in patients with common variable immunodeficiency. Scandinavian journal of immunology. 2013;77(5):405-12.
14. Yazdani R, Seify R, Ganjalikhani-Hakemi M, Abolhassani H, Eskandari N, Golsaz-Shirazi F, et al. Comparison of various classifications for patients with common variable immunodeficiency (CVID) using measurement of B-cell subsets. Allergologia et immunopathologia. 2017;45(2):183-92.
15. Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, et al. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. The Journal of allergy and clinical immunology. 2012;130(6):1428.
16. Azizi G, Ahmadi M, Abolhassani H, Yazdani R, Mohammadi H, Mirshafiey A, et al. Autoimmunity in Primary Antibody Deficiencies. International archives of allergy and immunology. 2016;171(3-4):180-93.
17. Azizi G, Abolhassani H, Mahdaviani SA, Chavoshzadeh Z, Eshghi P, Yazdani R, et al. Clinical, Immunological, Molecular Analyses and Outcomes of Iranian Patients with LRBA Deficiency: A Longitudinal Study. Pediatric Allergy and Immunology. 2017.
18. Bal SK, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, et al. Multiple Presentations of LRBA Deficiency: a Single-Center Experience. Journal of clinical immunology. 2017;37(8):790-800.19. Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS -responsive beige -like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. The Journal of allergy and clinical immunology. 2012;130(2):481 -8.e2.
20. Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut. 2013;62(12):1795 -805.
| Files | ||
| Issue | Vol 1, No 2 (2018) | |
| Section | Original Article | |
| DOI | https://doi.org/10.22034/igj.2018.80252 | |
| Keywords | ||
| LRBA deficiency Primary immunodeficiency enteropathy autoimmunity | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Tafaroji J, Salami F, Mahdaviani SA, Shirkani A, Chavoshzadeh Z. Gastrointestinal manifestations of Iranian patients with LRBA deficiency. Immunol Genet J. 2018;1(2):93-102.
