Major histocompatibility complex class II deficiency in Kuwait: Clinical manifestations, immunological findings and molecular profile

Journal of Clinical Immunology

Volumn 33, Issue 3, 2013, Pages 513-519

  Al Herz, Waleed ^a,b   Alsmadi, Osama ^c   Melhem, Motasem ^c   Recher, Mike ^d   Frugoni, Francesco ^d   Notarangelo, Luigi D ^d  

^a KUWAIT UNIVERSITY   (Kuwait)

^b AL SABAH HOSPITAL   (Kuwait)

^c DASMAN DIABETES INSTITUTE   (Kuwait)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Consanguinity; Kuwait; MHC class II deficiency; Molecular diagnosis; RFXANK gene

Indexed keywords

BUSULFAN; CYCLOSPORIN A; ETOPOSIDE; FLUDARABINE; IMMUNOGLOBULIN G; MELPHALAN; METHOTREXATE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PREDNISOLONE; RFXANK PROTEIN; THYMOCYTE ANTIBODY; TREOSULFAN; UNCLASSIFIED DRUG;

ADENOVIRUS INFECTION; ARTICLE; BARE LYMPHOCYTE SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CYTOMEGALOVIRUS INFECTION; DEATH; DIARRHEA; EAR NOSE THROAT DISEASE; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GENE; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN CELL; IMMUNOLOGIC PARAMETERS; IMMUNOLOGY; INFANT; INFECTION; KUWAIT; LIVER DISEASE; MALE; MEDICAL PARAMETERS; MISSENSE MUTATION; MOLECULAR GENETICS; OTORHINOLARYNGOLOGICAL INFECTION; PNEUMOCYSTIS PNEUMONIA; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; REGISTER; RFXANK GENE; SKIN BIOPSY; VEIN OCCLUSION; VIRUS INFECTION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GENE ORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY ANTIGENS CLASS II; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; KUWAIT; MALE; MIDDLE AGED; MUTATION; REGISTRIES; SEVERE COMBINED IMMUNODEFICIENCY; TRANSCRIPTION FACTORS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84879888397     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9831-8     Document Type: Article

References (15)

1. Ting JP, Trowsdale J. Genetic control of MHC class II expression. Cell 2002;109(Suppl:S21-33). Epub 2002/05/02.
2. Nekrep N, Fontes JD, Geyer M, Peterlin BM. When the lymphocyte loses its clothes. Immunity. 2003;18(4):453-7. Epub 2003/04/23.
3. Picard C, Fischer A. Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency. Immunol Allergy Clin North Am. 2010;30(2):173-8. Epub 2010/05/25.
4. Matheux F. Cellular and gene therapy for major histocompatibility complex class II deficiency. News Physiol Sci. 2004;19(3):154-8.
5. Reith W, Fischer A. Molecular basis of major histocompatibility complex class II deficiency. In: Ochs HD SC, Puck JM, editors. Primary immunodeficiency diseases. New York: Oxford University Press; 2007. p. 227-41.
6. Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, et al. Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood. 2011;118(19):5108-18. Epub 2011/09/13.
7. Al-Mousa H, Al-Shammari Z, Al-Ghonaium A, Al-Dhekri H, Al-Muhsen S, Al-Saud B, et al. Allogeneic stem cell transplantation using myeloablative and reduced-intensity conditioning in patients with major histocompatibility complex class II deficiency. Biol Blood Marrow Transplant: J Am Soc Blood Marrow Transplant. 2010;16(6):818-23. Epub 2010/01/19.
8. Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, et al. Clinical, immunologic and genetic profiles of DOCK8- deficient patients in Kuwait. Clin Immunol. 2012;143 (3):266-72.
9. Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112(5):973-80. Epub 2003/11/12.
10. Ward AM. PRU handbook of clinical immunochemistry. 8th ed. Sheffield: PRU Publication; 2004.
11. Al-Herz W, Naguib KK, Notarangelo LD, Geha RS, Alwadaani A. Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry. Int Arch Allergy Immunol. 2011;154 (1):76-80. Epub 2010/07/29.
12. Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, et al. The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr. 2010;169(9):1069-74. Epub 2010/04/24.
13. Saleem MA, Arkwright PD, Davies EG, Cant AJ, Veys PA. Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child. 2000;83(4):356-9. Epub 2000/09/22.
14. Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126 (3):602-10. e1-11. Epub 2010/08/03.
15. Renella R, Picard C, Neven B, Ouachee-Chardin M, Casanova JL, Le Deist F, et al. Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections. Br J Haematol. 2006;134(5):510-6. Epub 2006/07/20.