Clinical, immunological and genetic findings of a large Tunisian series of major histocompatibility complex class II deficiency patients

Journal of Clinical Immunology

Volumn 33, Issue 4, 2013, Pages 865-870

  Ben Mustapha, Imen ^a   Ben Farhat, Khaoula ^a   Guirat Dhouib, Naouel ^b   Dhemaied, Emna ^a   Larguèche, Beya ^a   Ben Ali, Meriem ^a   Chemli, Jalel ^c   Bouguila, Jihène ^c   Ben Mansour, Lamia ^d   Mellouli, Fethi ^b   Khemiri, Monia ^e   Béjaoui, Mohamed ^b   Barbouche, Mohamed Ridha ^a  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b CENTRE NATIONAL DE GREFFE DE MOELLE OSSEUSE   (Tunisia)

^c SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

^d HEDI CHAKER HOSPITAL   (Tunisia)

^e CHILDREN S HOSPITAL   (Tunisia)

Author keywords

MHC II deficiency; primary immunodeficiency disease; RFXANK gene; Tunisia

Indexed keywords

HLA DR ANTIGEN;

ANTIGEN EXPRESSION; ARTICLE; BARE LYMPHOCYTE SYNDROME; CHILD; CHRONIC DIARRHEA; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; FAILURE TO THRIVE; FEMALE; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INFANT; LUNG INFECTION; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TUNISIA;

CHILD, PRESCHOOL; CONSANGUINITY; DIARRHEA; DNA MUTATIONAL ANALYSIS; FAILURE TO THRIVE; FEMALE; FOUNDER EFFECT; GENETIC TESTING; HLA-DR ANTIGENS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; PEDIGREE; PRENATAL DIAGNOSIS; RESPIRATORY TRACT INFECTIONS; RETROSPECTIVE STUDIES; SEQUENCE DELETION; TRANSCRIPTION FACTORS; TUNISIA;

EID: 84878013097     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9863-8     Document Type: Article

References (26)

1. Viret C, Janeway Jr CA. MHC and T cell development. Rev Immunogenet. 1999;1(1):91-104.
2. Cresswell P. Assembly, transport, and function of MHC class II molecules. Annu Rev Immunol. 1994;12:259-93.
3. Klein C, Lisowska-Grospierre B, LeDeist F, Fischer A, Griscelli C. Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr. 1993;123(6):921-8.
4. 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.
5. Reith W, Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol. 2001;19:331-73.
6. Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol. 2006;26(6):519-32.
7. Al-Herz W, Alsmadi O, Melhem M, Recher M, Frugoni F, Notarangelo LD. Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile. J Clin Immunol. 2012. [Epub ahead of print]
8. Reda SM, Afifi HM, Amine MM. Primary immunodeficiency diseases in Egyptian children: a single-center study. J Clin Immunol. 2009;29(3):343-51.
9. 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.
10. Djidjik R, Messaoudani N, Tahiat A, Meddour Y, Chaib S, Atek A, et al. Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency. Allergy Asthma Clin Immunol. 2012;8(1):14.
11. Steimle V, Otten LA, Zufferey M, Mach B. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell. 1993;75(1):135-46.
12. Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, et al. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998;20(3):273-7.
13. Steimle V, Durand B, Barras E, Zufferey M, Hadam MR, Mach B, et al. A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 1995;9(9):1021-32.
14. Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, et al. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 1997;16(5):1045-55.
15. Lisowska-Grospierre B, Fondaneche MC, Rols MP, Griscelli C, Fischer A. Two complementation groups account for most cases of inherited MHC class II deficiency. Hum Mol Genet. 1994;3(6):953-8.
16. Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, et al. Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B. Immunogenetics. 2000;51(4-5):261-7.
17. 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.
18. Le Deist F. [How should an immunodeficiency be explored?]. Arch Pediatr. 2003;10 Suppl 4:510s-2.
19. Guirat-Dhouib N, Baccar Y, Mustapha IB, Ouederni M, Chouaibi S, El Fekih N, et al. Oral HPV infection and MHC class II deficiency (a study of two cases with atypical outcome). Clin Mol Allergy. 2012;10(1):6.
20. BenMustapha-Darghouth I, Trabelsi S, Largueche B, Bejaoui M, Dellagi K, Barbouche MR. Prevalence of pneumocystis jiroveci pneumonia in Tunisian primary immunodeficient patients. Arch Pediatr. 2007;14(1):20-3.
21. Ben Abda I, Essid R, Mellouli F, Aoun K, Bejaoui M, Bouratbine A. Cryptosporidium infection in patients with major histocompatibility complex class II deficiency syndrome in Tunisia: description of five cases. Arch Pediatr. 2011;18(9):939-44.
22. Halsey NA, Pinto J, Espinosa-Rosales F, Faure-Fontenla MA, da Silva E, Khan AJ, et al. Search for poliovirus carriers among people with primary immune deficiency diseases in the United States, Mexico, Brazil, and the United Kingdom. Bull World Health Organ. 2004;82(1):3-8.
23. Driss N, Ben-Mustapha I, Mellouli F, Ben Yahia A, Touzi H, Bejaoui M, et al. High susceptibility for enterovirus infection and virus excretion features in tunisian patients with primary immunodeficiencies. Clin Vaccine Immunol. 2012;19(10):1684-9.
24. Wiszniewski W, Fondaneche MC, Le Deist F, Kanariou M, Selz F, Brousse N, et al. Mutation in the class II trans-activator leading to a mild immunodeficiency. J Immunol. 2001;167(3):1787-94.
25. El Moncer W, Esteban E, Bahri R, Gaya-Vidal M, Carreras-Torres R, Athanasiadis G, et al. Mixed origin of the current Tunisian population from the analysis of Alu and Alu/STR compound systems. J Hum Genet. 2010;55(12):827-33.
26. Barbouche MR, Galal N, Ben-Mustapha I, Jeddane L, Mellouli F, Ailal F, et al. Primary immunodeficiencies in highly consanguineous North African populations. Ann N Y Acad Sci. 2011;1238:42-52.