Human population structure, genome autozygosity and human health, Genome Medicine, vol.1, issue.9, pp.91-101, 2009. ,
DOI : 10.1186/gm91
Study of Regions of Extended Homozygosity Provides a Powerful Method to Explore Haplotype Structure of Human Populations, Annals of Human Genetics, vol.73, issue.5, pp.261-78, 2008. ,
DOI : 10.1111/j.1469-1809.2007.00411.x
Genome-wide autozygosity mapping in human populations, Genetic Epidemiology, vol.56, issue.2, pp.172-80, 2009. ,
DOI : 10.1186/1479-7364-1-4-287
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, vol.51, issue.4-5, pp.4-5261, 2000. ,
DOI : 10.1007/s002510050619
The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population, European Journal of Pediatrics, vol.54, issue.5, pp.1069-74, 2010. ,
DOI : 10.1016/0092-8674(93)90685-J
Consanguinity and Primary Immunodeficiencies, Human Heredity, vol.77, issue.1-4, pp.138-181, 2014. ,
DOI : 10.1159/000357710
URL : https://hal.archives-ouvertes.fr/pasteur-01375102
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015, Journal of Clinical Immunology, vol.35, issue.8, pp.696-726, 2015. ,
DOI : 10.1007/s10875-015-0201-1
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases, Journal of Allergy and Clinical Immunology, vol.137, issue.6, pp.1780-1787, 2016. ,
DOI : 10.1016/j.jaci.2015.12.1310
The European internet-based patient and research database for primary immunodeficiencies: update 2011, Clinical & Experimental Immunology, vol.118, issue.1, pp.479-91, 2012. ,
DOI : 10.1182/blood-2011-04-347641
Primary immunodeficiency diseases in Saudi Arabia: a tertiary care hospital experience over a period of three years, 2010. ,
Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital???s 5-Year Experience, Journal of Clinical Immunology, vol.185, issue.1, pp.649-55, 2016. ,
DOI : 10.1086/340510
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients, Blood, vol.118, issue.19, pp.5108-5126, 2011. ,
DOI : 10.1182/blood-2011-05-352716
Primary immunodeficiencies in highly consanguineous North African populations, Annals of the New York Academy of Sciences, vol.89, issue.Suppl. 1, pp.42-52, 2011. ,
DOI : 10.1097/MD.0b013e3181fdd832
URL : https://hal.archives-ouvertes.fr/pasteur-00658358
Frequency and Clinical Manifestations of Patients with Primary Immunodeficiency Disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry, Journal of Clinical Immunology, vol.134, issue.6, pp.519-551, 2006. ,
DOI : 10.1016/S0891-5245(02)25178-0
Primary Immunodeficiency Disorders in Kuwait: First Report from Kuwait National Primary Immunodeficiency Registry (2004???2006), Journal of Clinical Immunology, vol.361, issue.6, pp.186-93, 2004. ,
DOI : 10.1016/S0301-0546(01)79031-3
Primary Immunodeficiency Diseases in Egyptian Children: A Single-Center Study, Journal of Clinical Immunology, vol.147, issue.2, pp.343-51, 2009. ,
DOI : 10.1111/j.1365-2249.2006.03292.x
A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease, Blood, vol.85, issue.1, pp.242-251, 1995. ,
Interferon-?? ???Receptor Deficiency in an Infant with Fatal Bacille Calmette???Gu??rin Infection, New England Journal of Medicine, vol.335, issue.26, pp.1956-6110, 1056. ,
DOI : 10.1056/NEJM199612263352604
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome, European Journal of Pediatrics, vol.50, issue.12, pp.704-712, 2004. ,
DOI : 10.1007/s00431-004-1540-8
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients, Immunogenetics, vol.50, issue.1, pp.19-28, 2016. ,
DOI : 10.1006/clim.2001.5022
URL : https://hal.archives-ouvertes.fr/hal-01356502
IL-17 T Cells??? Defective Differentiation In Vitro Despite Normal Range Ex Vivo in Chronic Mucocutaneous Candidiasis Due to STAT1 Mutation, Journal of Investigative Dermatology, vol.134, issue.4, pp.1155-1162, 2014. ,
DOI : 10.1038/jid.2013.480
URL : https://hal.archives-ouvertes.fr/pasteur-01061212
Homozygous TCF3 mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia, J Allergy Clin Immunol, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01571310
Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate, Molecular Immunology, vol.79, pp.77-82, 2016. ,
DOI : 10.1016/j.molimm.2016.09.025
URL : https://hal.archives-ouvertes.fr/pasteur-01453058
A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients, Journal of Clinical Immunology, vol.66, issue.1, pp.547-54, 2016. ,
DOI : 10.1007/s00251-015-0878-6.
URL : https://hal.archives-ouvertes.fr/pasteur-01374995
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression, Journal of Allergy and Clinical Immunology, vol.140, issue.1, 2017. ,
DOI : 10.1016/j.jaci.2016.11.033
URL : https://hal.archives-ouvertes.fr/hal-01563901
A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients, Immunogenetics, vol.70, issue.3, pp.67-71, 2014. ,
DOI : 10.1016/S0065-2776(08)60387-9
URL : https://hal.archives-ouvertes.fr/pasteur-01061271
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels, Journal of Allergy and Clinical Immunology, vol.133, issue.5, pp.1410-1419, 2014. ,
DOI : 10.1016/j.jaci.2014.02.025
URL : https://hal.archives-ouvertes.fr/pasteur-01060838
Consanguinity, endogamy, and genetic disorders in Tunisia, Journal of Community Genetics, vol.71, issue.2, pp.273-84, 2013. ,
DOI : 10.1111/j.1469-1809.2006.00308.x
URL : https://hal.archives-ouvertes.fr/pasteur-00859212
Consanguinity and genetic diseases in North Africa and immigrants to Europe, The European Journal of Public Health, vol.24, issue.suppl 1, pp.57-63, 2014. ,
DOI : 10.1093/eurpub/cku104
Lessons from rare maladies, Current Opinion in Hematology, vol.20, issue.1, pp.16-25, 2013. ,
DOI : 10.1097/MOH.0b013e32835a0091
Clinical, Immunological and Genetic Findings of a Large Tunisian Series of Major Histocompatibility Complex Class II Deficiency Patients, Journal of Clinical Immunology, vol.1238, issue.12 ,
DOI : 10.1111/j.1749-6632.2011.06260.x
URL : https://hal.archives-ouvertes.fr/pasteur-00860600
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988???2012), Journal of Clinical Immunology, vol.27, issue.1, pp.745-53, 2015. ,
DOI : 10.1007/s10875-006-9052-0
URL : https://hal.archives-ouvertes.fr/pasteur-01375025
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients, Journal of Allergy and Clinical Immunology, vol.132, issue.5, 2013. ,
DOI : 10.1016/j.jaci.2013.05.039
Chronic Granulomatous Disease: The European Experience, PLoS ONE, vol.8, issue.4, 2009. ,
DOI : 10.1371/journal.pone.0005234.t017
URL : https://hal.archives-ouvertes.fr/hal-00382226
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome, Blood, vol.105, issue.5, pp.1881-90, 2005. ,
DOI : 10.1182/blood-2003-12-4420
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes, Journal of Clinical Immunology, vol.82, issue.2, pp.146-56, 2014. ,
DOI : 10.1001/jama.2010.491
Clinical Manifestations of Hyper IgE Syndromes, Disease Markers, vol.29, issue.3-4, pp.123-153, 2010. ,
DOI : 10.1155/2010/580197
Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein, Gene, vol.242, issue.1-2 ,
DOI : 10.1016/S0378-1119(99)00543-0
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment, Journal of Allergy and Clinical Immunology, vol.133, issue.5, pp.1400-1409, 2014. ,
DOI : 10.1016/j.jaci.2014.02.013
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia, The American Journal of Human Genetics, vol.95, issue.1, pp.96-107, 2014. ,
DOI : 10.1016/j.ajhg.2014.05.007
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency, Acta Paediatrica, vol.213, issue.Suppl 1, pp.1065-72, 2002. ,
DOI : 10.1203/00006450-198002000-00117
Considerations for Primary Immune Deficiency Disorders in Africa and the Middle East, Stiehm's Immune Deficiencies, pp.957-64, 2014. ,
DOI : 10.1016/B978-0-12-405546-9.00054-6
Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome, Cell, vol.81, issue.6, pp.935-981, 1995. ,
DOI : 10.1016/0092-8674(95)90013-6
Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance, The American Journal of Human Genetics, vol.64, issue.4, pp.1002-1016, 1999. ,
DOI : 10.1086/302333
FAS Haploinsufficiency Is a Common Disease Mechanism in the Human Autoimmune Lymphoproliferative Syndrome, The Journal of Immunology, vol.186, issue.10, pp.6035-6078, 2011. ,
DOI : 10.4049/jimmunol.1100021
Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype, British Journal of Haematology, vol.172, issue.1, pp.124-164, 2006. ,
DOI : 10.1002/ana.410430120
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR???????? B cells, Journal of Clinical Investigation, vol.123, issue.11, pp.4781-4786, 2013. ,
DOI : 10.1172/JCI71927DS1
Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency, Allergy, Asthma & Clinical Immunology, vol.8, issue.1, pp.14-24, 2012. ,
DOI : 10.1007/s00251-003-0609-2
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East, Orphanet Journal of Rare Diseases, vol.7, issue.1, pp.52-62, 2012. ,
DOI : 10.1186/1750-1172-7-52
URL : https://hal.archives-ouvertes.fr/pasteur-00859423
Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile, Journal of Clinical Immunology, vol.134, issue.5, pp.513-522, 2013. ,
DOI : 10.1111/j.1365-2141.2006.06213.x
Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent, Journal of Clinical Immunology, vol.134, issue.1, pp.4-5, 2016. ,
DOI : 10.1111/j.1365-2141.2006.06213.x
Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course, Immunogenetics, vol.55, issue.8, pp.530-539, 2003. ,
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome, Blood, vol.97, issue.9, pp.2772-2778, 2001. ,
DOI : 10.1182/blood.V97.9.2772
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection, Journal of Clinical Investigation, vol.115, issue.11, pp.3291-3300, 2005. ,
DOI : 10.1172/JCI25178
URL : https://hal.archives-ouvertes.fr/hal-00020065
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes, Journal of Allergy and Clinical Immunology, vol.133, issue.4, pp.1124-1157, 2014. ,
DOI : 10.1016/j.jaci.2013.11.028
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family, Pediatric Allergy and Immunology, vol.2, issue.Suppl 1, pp.660-666, 2012. ,
DOI : 10.1159/000314077
Deep Dermatophytosis and Inherited CARD9 Deficiency, New England Journal of Medicine, vol.369, issue.18, pp.1704-1718, 2013. ,
DOI : 10.1056/NEJMoa1208487
Research Unit on Molecular Investigation of Genetic Orphan Diseases, Collaborators. Genetic diseases in the Tunisian population, Am J Med Genet A, vol.1551, pp.238-67, 2011. ,