Diagnostic and treatment options for severe IBD in female X-CGD carriers with non-random X-inactivation

Journal of Crohn's and Colitis

Volumn 10, Issue 1, 2016, Pages 112-115

  Hauck, Fabian ^a   Koletzko, Sibylle ^a   Walz, Christoph ^b   Von Bernuth, Horst ^c   Klenk, Anne ^a   Schmid, Irene ^a   Belohradsky, Bernd H ^a   Klein, Christoph ^a   Bufler, Philip ^a   Albert, Michael H ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Allogeneic haematopoietic stem cell transplantation; Inflammatory bowel disease; X chromosomal chronic granulomatous disease

Indexed keywords

ADALIMUMAB; ALEMTUZUMAB; AMOXICILLIN; AZATHIOPRINE; BUSULFAN; CD163 ANTIGEN; CHLORDANE; CITALOPRAM; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; DIHYDRORHODAMINE 123; DOXORUBICIN; DOXYCYCLINE; FLUDARABINE; INFLIXIMAB; METHOTREXATE; METRONIDAZOLE; MYCOPHENOLATE MOFETIL; PREDNISONE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; RITUXIMAB; VINCRISTINE; CYBB PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANGIOFOLLICULAR LYMPH NODE HYPERPLASIA; ANUS FISTULA; ARTICLE; AUTOIMMUNITY; BLOODY DIARRHEA; CACHEXIA; CASE REPORT; CELL AGING; CHILD; CHRONIC GRANULOMATOUS DISEASE; COLITIS; COLON BIOPSY; COLONOSCOPY; COMBINATION CHEMOTHERAPY; CORTICOSTEROID THERAPY; CROHN DISEASE; DISEASE SEVERITY; DRUG WITHDRAWAL; ENTERIC FEEDING; ENZYME ACTIVITY; FECES INCONTINENCE; FEMALE; FEVER; FOLLOW UP; GASTROINTESTINAL BIOPSY; GENE SEQUENCE; GRAFT VERSUS HOST REACTION; HEALING; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOPHENOTYPING; IMMUNOSUPPRESSIVE TREATMENT; INFLAMMATORY BOWEL DISEASE; MACROPHAGE; MISSENSE MUTATION; MOLECULAR GENETICS; MUCOSAL HEALING; MYELOABLATIVE CONDITIONING; OSTEOPOROSIS; PANCOLITIS; PRIORITY JOURNAL; PROCTITIS; QUALITY OF LIFE; REACTIVE DEPRESSION; REMISSION; SCHOOL CHILD; X CHROMOSOME INACTIVATION; X LINKED CHRONIC GRANULOMATOUS DISEASE; YOUNG ADULT; ALLOGRAFT; EPIDEMIOLOGY; GENETIC PREDISPOSITION; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; NEEDLE BIOPSY; PATHOLOGY; PROCEDURES; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

ADULT; ALLOGRAFTS; BIOPSY, NEEDLE; CROHN DISEASE; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GRANULOMATOUS DISEASE, CHRONIC; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE GLYCOPROTEINS; MUTATION, MISSENSE; NADPH OXIDASE; RISK ASSESSMENT; SAMPLING STUDIES; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 84963729153     PISSN: 18739946     EISSN: 18764479     Source Type: Journal    
DOI: 10.1093/ecco-jcc/jjv186     Document Type: Article

References (15)

1. Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014;5:162
2. Roos DH, Holland S.M, Kuijpers TW. Chronic granulomatous disease. In: Ochs HDS, Edvard-Smith C. I. E, Puck JM. (eds) Primary Immunodeficiency Diseases, A Molecular and Genetic Approach. Oxford, UK: Oxford University Press, 2014
3. Alimchandani M, Lai JP, Aung PP et al. Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients. Am J Surg Pathol 2013;37:1365-72
4. Mauch L, Lun A, O'Gorman MR, et al. Chronic granulomatous disease [CGD] and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. Clin Chem 2007;53:890-6
5. Gungor T, Teira P, Slatter M, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet 2014;383:436-48
6. Cole T, Pearce MS, Cant AJ, Cale CM, Goldblatt D, Gennery AR. Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation. J Allergy Clin Immunol 2013;132:1150-5
7. Rosen-Wolff A, Soldan W, Heyne K, Bickhardt J, Gahr M, Roesler J. Increased susceptibility of a carrier of X-linked chronic granulomatous disease [CGD] to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Ann Hematol 2001;80: 113-5
8. Battersby AC, Cale AM, Goldblatt D, Gennery AR. Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease. J Clin Immunol 2013;33:1276-84
9. Deng X, Berletch JB, Nguyen DK, Disteche CM. X chromosome regulation: diverse patterns in development, tissues and disease. Nat Rev Genet 2014;15:367-78
10. Di Matteo G, Giordani L, Finocchi A, et al. Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. Mol Immunol 2009;46:1935-41
11. Roos D, de Boer M, Kuribayashi F, et al. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 1996;87:1663-81
12. Goronzy JJ, Li G, Yang Z, Weyand CM. The janus head of T cell aging-autoimmunity and immunodeficiency. Front Immunol 2013;4:131
13. Liu S, Russo PA, Baldassano RN, Sullivan KE. CD68 expression is markedly different in Crohn's disease and the colitis associated with chronic granulomatous disease. Inflamm Bowel Dis 2009;15:1213-7
14. Turner D, Levine A, Kolho KL, Shaoul R, Ledder O. Combination of oral antibiotics may be effective in severe pediatric ulcerative colitis: a preliminary report. J Crohns Colitis 2014;8:1464-70
15. Hauck F, Heine S, Beier R, et al. Chronic granulomatous disease [CGD] mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases. J Pediatr Hematol Oncol 2008;30:877-80