Z. Zhang, X. Zhao, L. Jiang, E. Liu, M. Wang et al., Clinical Characteristics and Molecular Analysis of 21 Chinese Children with Congenital Agammaglobulinemia, Scandinavian Journal of Immunology, vol.203, issue.5, pp.72-454, 2010.
DOI : 10.1093/hmg/4.1.51

W. Al-herz, A. Bousfiha, J. Casanova, T. Chatila, M. Conley et al., Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency, Front. Immunol, vol.5, p.162, 2014.

M. E. Conley, J. Rohrer, and Y. Minegishi, X-Linked Agammaglobulinemia, Clinical Reviews in Allergy & Immunology, vol.19, issue.2, pp.183-204, 2000.
DOI : 10.1385/CRIAI:19:2:183

G. López-herrera, A. Vargas-hernández, M. E. González-serrano, L. Berrón-ruiz, J. C. Rodríguez-alba et al., Bruton's tyrosine kinase--an integral protein of B cell development that also has an essential role in the innate immune system, Journal of Leukocyte Biology, vol.95, issue.2, pp.243-250, 2014.
DOI : 10.1189/jlb.0513307

S. A. Miller, D. D. Dykes, and H. F. Polesky, A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Research, vol.16, issue.3, p.1215, 1988.
DOI : 10.1093/nar/16.3.1215

URL : https://academic.oup.com/nar/article-pdf/16/3/1215/4063153/16-3-1215.pdf

W. Al-herz, H. Aldhekri, and N. B. Rezaei, Consanguinity and Primary Immunodeficiencies, Human Heredity, vol.77, issue.1-4, pp.138-143, 2014.
DOI : 10.1159/000357710

URL : https://hal.archives-ouvertes.fr/pasteur-01375102

A. Aghamohammadi, M. Fiorini, M. Moin, N. Parvaneh, S. Teimourian et al., Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked Agammaglobulinemia, International Archives of Allergy and Immunology, vol.18, issue.4, pp.408-414, 2006.
DOI : 10.1111/j.0105-2896.2005.00233.x

M. E. Conley and V. Howard, Clinical findings leading to the diagnosis of X-linked agammaglobulinemia, The Journal of Pediatrics, vol.141, issue.4, pp.566-571, 2002.
DOI : 10.1067/mpd.2002.127711

C. Pietrogrande, I. Pignata, V. Quinti, P. Ragno, A. Rossi et al., Stabile a and the Italian pediatric group for XLA-AIEOP: clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study, Clin. Immunol, vol.104, pp.221-230, 2002.

X. Qin, L. P. Jiang, X. M. Tang, M. Wang, E. M. Liu et al., Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients, World Journal of Pediatrics, vol.203, issue.3, pp.273-277, 2013.
DOI : 10.1111/j.0105-2896.2005.00225.x

Q. V. Vu, T. Wada, H. T. Le, H. T. Le, A. T. Van-nguyen et al., Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia, BMC Pediatrics, vol.13, issue.Suppl 2, 2014.
DOI : 10.1038/ni.2234

P. P. Lee, T. X. Chen, L. P. Jiang, K. W. Chan, W. Yang et al., Clinical Characteristics and Genotype-phenotype Correlation in 62 Patients with X-linked Agammaglobulinemia, Journal of Clinical Immunology, vol.42, issue.1, pp.30-121, 2010.
DOI : 10.1097/00005792-198505000-00001

J. Valiaho, C. I. Smith, and . Vihinen, BTKbase: the mutation database for X-linked agammaglobulinemia, Human Mutation, vol.180, issue.12, pp.1209-1217, 2006.
DOI : 10.1002/0470034092.ch20

B. K. Saha, S. K. Curtis, L. B. Vogler, and M. Vihinen, Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia, Mol. Med, vol.3, pp.477-485, 1997.

M. Speletas, M. Kanariou, F. Kanakoudi-tsakalidou, E. Papadopoulou-alataki, K. Arvanitidis et al., Analysis of Btk Mutations in Patients with X-Linked Agammaglobulinaemia (XLA) and Determination of Carrier Status in Normal Female Relatives: a Nationwide Study of Btk Deficiency in Greece, Scandinavian Journal of Immunology, vol.54, issue.3, pp.54-321, 2001.
DOI : 10.1046/j.1365-3083.2001.00967.x

M. E. Conley, M. E. Fitch-hilgenberg, J. L. Cleveland, O. Parolini, and J. Rohrer, Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase, Human Molecular Genetics, vol.3, issue.10, pp.1751-1756, 1994.
DOI : 10.1093/hmg/3.10.1751

I. Vorechovský, L. Luo, J. M. Hertz, S. S. Frøland, T. Klemola et al., Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia, Human Mutation, vol.3, issue.5, pp.418-425, 1997.
DOI : 10.1128/MCB.9.7.2868

L. Yu, X. Wang, Y. Wang, and J. Wang, Identification of Two Novel Mutations in Patients With X-Linked Primary Immunodeficiencies, Fetal and Pediatric Pathology, vol.65, issue.2, pp.91-98, 2014.
DOI : 10.1136/jcp.2004.016204

M. Vihinen, D. Vetrie, H. S. Maniar, H. D. Ochs, Q. Zhu et al., Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease., Proceedings of the National Academy of Sciences, vol.91, issue.26, pp.12803-12807, 1994.
DOI : 10.1073/pnas.91.26.12803

URL : http://www.pnas.org/content/91/26/12803.full.pdf

A. Broides, Y. Wenjian, and M. E. Conley, Genotype/phenotype correlations in X-linked agammaglobulinemia, Clinical Immunology, vol.118, issue.2-3, pp.195-200, 2006.
DOI : 10.1016/j.clim.2005.10.007