Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation

Journal of Clinical Immunology

Volumn 36, Issue 5, 2016, Pages 480-489

  Tesi, Bianca ^a   Priftakis, Peter ^a   Lindgren, Fredrik ^a   Chiang, Samuel C C ^a   Kartalis, Nikolaos ^a   Löfstedt, Alexandra ^a   Lörinc, Esther ^a,b   Henter, Jan Inge ^a   Winiarski, Jacek ^a   Bryceson, Yenan T ^a   Meeths, Marie ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

acute disseminated encephalomyelitis; common variable immune deficiency; enteropathy; hematopoietic stem cell transplantation; primary immunodeficiency; whole exome sequencing

Indexed keywords

ALBUMIN; ANTIBIOTIC AGENT; AZATHIOPRINE; CALGRANULIN; CELL PROTEIN; IMMUNOGLOBULIN; LPS RESPONSIVE BEIGE LIKE ANCHOR PROTEIN; METHYLPREDNISOLONE; PREDNISOLONE; TACROLIMUS; UNCLASSIFIED DRUG; HLA ANTIGEN; LRBA PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ACUTE DISSEMINATED ENCEPHALOMYELITIS; ALBUMIN BLOOD LEVEL; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNE PANCREATITIS; AUTOIMMUNE THYROIDITIS; CASE REPORT; CHILD; DRUG MEGADOSE; DRUG PULSE THERAPY; FOLLOW UP; GASTROSCOPY; GENE DELETION; GENE MUTATION; GRAFT VERSUS HOST REACTION; HEPATOSPLENOMEGALY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOSUPPRESSIVE TREATMENT; LYMPHOCYTIC COLITIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFECT; SCHOOL CHILD; SUBSTITUTION THERAPY; ANEMIA, HEMOLYTIC, AUTOIMMUNE; AUTOIMMUNITY; B LYMPHOCYTE; BLOOD; COMMON VARIABLE IMMUNODEFICIENCY; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; IMMUNOLOGY; NATURAL KILLER CELL; TREATMENT OUTCOME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANEMIA, HEMOLYTIC, AUTOIMMUNE; AUTOIMMUNITY; B-LYMPHOCYTES; CHILD; COMMON VARIABLE IMMUNODEFICIENCY; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; HLA ANTIGENS; HUMANS; IMMUNOGLOBULINS; KILLER CELLS, NATURAL; MALE; SEQUENCE DELETION; TREATMENT OUTCOME;

EID: 84965058557     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0289-y     Document Type: Article

References (30)

1. Gathmann B, Mahlaoui N, Gérard L, Oksenhendler E, Warnatz K, Schulze I, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134:116–26.e11.
2. Abolhassani H, Sagvand BT, Shokuhfar T, Mirminachi B, Rezaei N, Aghamohammadi A. A review on guidelines for management and treatment of common variable immunodeficiency. Expert Rev Clin Immunol. 2013;9:561–75.
3. Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90:986–1001.
4. Cullinane AR, Schäffer AA, Huizing M. The BEACH is hot: a LYST of emerging roles for BEACH-Domain containing proteins in human disease. Traffic. 2013;14:749–66.
5. Wu C, Orozco C, Boyer J, Leglise M, Goodale J, Batalov S, et al. BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol. 2009;10:R130.
6. Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349:436–40.
7. Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20:1410–6.
8. Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014;345:1623–7.
9. Charbonnier L-M, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015;135:217–27.e9.
10. 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. J Allergy Clin Immunol. 2012;130:1428–32.
11. 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. J Allergy Clin Immunol. 2012;130:481–8.e2.
12. Serwas NK, Kansu A, Santos-Valente E, Kuloğlu Z, Demir A, Yaman A, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel Dis. 2015;21:40–7.
13. Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, et al. Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. J Allergy Clin Immunol. 2015;135:1384–90.e8.
14. Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. Clin Immunol. 2015;159:84–92.
15. Li H, Durbin R. Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics. 2009;25:1754–60.
16. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43:491–8.
17. McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010;26:2069–70.
18. Paila U, Chapman BA, Kirchner R, Quinlan AR. GEMINI: integrative exploration of genetic variation and genome annotations. PLoS Comput Biol. 2013;9:e1003153.
19. Chiang SCC, Theorell J, Entesarian M, Meeths M, Mastafa M, Al-Herz W, et al. Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. Blood. 2013;121:1345–56.
20. Montalto M, D’Onofrio F, Santoro L, Gallo A, Gasbarrini A, Gasbarrini G. Autoimmune enteropathy in children and adults. Scand J Gastroenterol. 2009;44:1029–36.
21. Luzi G, Zullo A, Iebba F, Rinaldi V, Sanchez Mete L, Muscaritoli M, et al. Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients. Am J Gastroenterol. 2003;98:118–21.
22. Agarwal S, Mayer L. Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol. 2013;11:1050–63.
23. Maarschalk-Ellerbroek L, Oldenburg B, Mombers I, Hoepelman A, Brosens L, Offerhaus G, et al. Outcome of screening endoscopy in common variable immunodeficiency disorder and X-linked agammaglobulinemia. Endoscopy. 2013;45:320–3.
24. Mellemkjær L, Hammarström L, Andersen V, Yuen J, Heilmann C, Barington T, et al. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol. 2002;130:495–500.
25. Kondo M, Fukao T, Teramoto T, Kaneko H, Takahashi Y, Okamoto H, et al. A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome. Pediatr Allergy Immunol. 2005;16:357–60.
26. Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint BG, Blanche S, et al. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood. 2005;106:40–2.
27. Kang E, Gennery A. Hematopoietic stem cell transplantation for primary immunodeficiencies. Hematol Oncol Clin North Am. 2014;28:1157–70.
28. Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood. 2007;109:383–5.
29. Nademi Z, Slatter M, Gambineri E, Mannurita SC, Barge D, Hodges S, et al. Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Bone Marrow Transplant. 2014;49:310–2.
30. Rizzi M, Neumann C, Fielding AK, Marks R, Goldacker S, Thaventhiran J, et al. Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency. J Allergy Clin Immunol. 2011;128:1371–4.e2.