Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency

Journal of Allergy and Clinical Immunology

Volumn 138, Issue 2, 2016, Pages 612-615.e1

  Grunebaum, Eyal ^a,b   Kim, Vy Hong Diep ^a,b   Somers, Gino R ^b,c   Shammas, Amer ^b,d   Roifman, Chaim M ^a,b  

^a Divisions of Allergy and Immunology   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c Department of Pediatric Laboratory Medicine ^*  (Canada)

^d Division of Nuclear Medicine   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BUDESONIDE; BUSULFAN; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; MEPREDNISONE; METHYLPREDNISOLONE; MYCOPHENOLATE MOFETIL; RAPAMYCIN; STAT1 PROTEIN; STAT1 PROTEIN, HUMAN;

ACUTE GRAFT VERSUS HOST DISEASE; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CHILD; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; DRUG PULSE THERAPY; EXTRAVASATION; GASTROINTESTINAL BIOPSY; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; GENE SEQUENCE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN TISSUE; IMMUNOPROPHYLAXIS; MALE; MYELOABLATIVE CONDITIONING; NONHUMAN; OTITIS MEDIA; PARONYCHIA; PNEUMONIA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SHORT STATURE; SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1 DEFICIENCY; SKIN BIOPSY; AMINO ACID SUBSTITUTION; CHEMISTRY; DEFICIENCY; DIAGNOSTIC IMAGING; GENETICS; GRAFT VERSUS HOST REACTION; IMMUNE DEFICIENCY; MUTATION; PROTEIN DOMAIN;

AMINO ACID SUBSTITUTION; BONE MARROW TRANSPLANTATION; CHILD; GASTROINTESTINAL HEMORRHAGE; GRAFT VS HOST DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; PROTEIN DOMAINS; STAT1 TRANSCRIPTION FACTOR;

EID: 84962439610     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2016.02.009     Document Type: Article

References (12)

1. 1 Boisson-Dupuis, S., Kong, X.F., Okada, S., Cypowyj, S., Puel, A., Abel, L., et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 24 (2012), 364–378.
2. 2 Nahum, A., Dalal, I., Clinical manifestations associated with novel mutations in the coiled-coil domain of STAT1. LymphoSign J 1 (2014), 97–103.
3. 3 Roifman, C.M., Monoallelic STAT1 mutations and disease patterns. LymphoSign J 1 (2014), 57–59.
4. 4 Sharfe, N., Nahum, A., Newell, A., Dadi, H., Ngan, B., Pereira, S.L., et al. Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. J Allergy Clin Immunol 133 (2014), 807–817.
5. 5 Takezaki, S., Yamada, M., Kato, M., Park, M.J., Maruyama, K., Yamazaki, Y., et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol 189 (2012), 1521–1526.
6. 6 Uzel, G., Sampaio, E.P., Lawrence, M.G., Hsu, A.P., Hackett, M., Dorsey, M.J., et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol 131 (2013), 1611–1623.
7. 7 Faitelson, Y., Bates, A., Shroff, M., Grunebaum, Y., Roifman, C.M., Naqvi, M., A mutation in the STAT1 DNA-binding domain associated with hemophagocytic lymphohistiocytosis. LymphoSign J 1 (2014), 87–95.
8. 8 Aldave, J.C., Cachay, E., Núñez, L., Chunga, A., Murillo, S., Cypowyj, S., et al. A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation. J Clin Immunol 33 (2013), 1273–1275.
9. 9 Grunebaum, E., Mazzolari, E., Porta, F., Dallera, D., Atkinson, A., Reid, B., et al. Bone marrow transplantation for severe combined immune deficiency. JAMA 295 (2006), 508–518.
10. 10 Somech, R., Kavadas, F.D., Atkinson, A., Grunebaum, E., Roifman, C.M., High-dose methylprednisolone is effective in the management of acute graft-versus-host disease in severe combined immune deficiency. J Allergy Clin Immunol 122 (2008), 1215–1216.
11. 11 Soltész, B., Tóth, B., Shabashova, N., Bondarenko, A., Okada, S., Cypowyj, S., et al. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet 50 (2013), 567–578.
12. 12 Hoh, M.C., Lin, H.P., Chan, L.L., Lam, S.K., Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome. Bone Marrow Transplant 18 (1996), 797–800.