Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects

References

• Lee PP, Chen TX, Jiang LP, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol. 2010;30(1):121–131.
   PubMed Web of Science ®Google Scholar
• Broides A, Yang W, Conley ME. Genotype/phenotype correlations in X-linked agammaglobulinemia. Clin Immunology. 2006;118(23):195–200.
   PubMed Web of Science ®Google Scholar
• Conley ME, Rohrer J, Rapalus L, et al. Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse. Immunol Rev. 2000;178:75–90.
   PubMed Web of Science ®Google Scholar
• Van Der Burg M, van Zelm MC, Driessen GJ, et al. New frontiers of primary antibody deficiencies. Cell Mol Life Sci. 2012;69(1):59–73.
   PubMed Web of Science ®Google Scholar
• Ferrari S, Zuntini R, Lougaris V, et al. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun. 2007;8(4):325–333.
   PubMed Web of Science ®Google Scholar
• Ochs HD, Notarangelo LD. X-linked immunodeficiencies. Curr Allergy Asthma Rep. 2004;4(5):339–348.
   PubMed Web of Science ®Google Scholar
• Lopez-Granados E, Perez de Diego R, Ferreira Cerdan A, et al. A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. J Allergy Clin Immunol. 2005;116(3):690–697.
   PubMed Web of Science ®Google Scholar
• Holinski-Feder E, Weiss M, Brandau O, et al. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics. 1998;101(2):276–284.
   PubMed Web of Science ®Google Scholar
• Yel L, Minegishi Y, Coustan-Smith E, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med. 1996;335(20):1486–1493.
   PubMed Web of Science ®Google Scholar
• Lopez Granados E, Porpiglia AS, Hogan MB, et al. Clinical and molecular analysis of patients with defects in micro heavy chain gene. J Clin Invest. 2002;110(7):1029–1035.
   PubMed Web of Science ®Google Scholar
• Minegishi Y, Rohrer J, Coustan-Smith E, et al. An essential role for BLNK in human B cell development. Science. 1999;286(5446):1954–1957.
   PubMed Web of Science ®Google Scholar
• Minegishi Y, Coustan-Smith E, Wang YH, et al. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med. 1998;187(1):71–77.
   PubMed Web of Science ®Google Scholar
• Sawada A, Takihara Y, Kim JY, et al. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J Clin Invest. 2003;112(11):1707–1713.
   PubMed Web of Science ®Google Scholar
• Minegishi Y, Coustan-Smith E, Rapalus L, et al. Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J Clin Invest. 1999;104(8):1115–1121.
   PubMed Web of Science ®Google Scholar
• Khalili A, Plebani A, Vitali M, et al. Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. J Clin Immunol. 2014;34(2):138–141.
   PubMed Web of Science ®Google Scholar
• Wang Y, Kanegane H, Sanal O, et al. Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet. 2002;108(4):333–336.
   PubMed Web of Science ®Google Scholar
• Ferrari S, Lougaris V, Caraffi S, et al. Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med. 2007;204(9):2047–2051.
   PubMed Web of Science ®Google Scholar
• Dobbs AK, Yang T, Farmer D, et al. Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. J Immunology. 2007;179(4):2055–2059.
   PubMed Web of Science ®Google Scholar
• Abolhassani H, Parvaneh N, Rezaei N, et al. Genetic defects in B-cell development and their clinical consequences. J Investig Allergol Clin Immunol. 2014;24(1):6–22. quiz 2 p following.
   PubMed Web of Science ®Google Scholar
• Boisson B, Wang YD, Bosompem A, et al. A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. J Clin Invest. 2013;123(11):4781–4785.
   PubMed Web of Science ®Google Scholar
• Conley ME, Dobbs AK, Quintana AM, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K. J Exp Med. 2012;209(3):463–470.
   PubMed Web of Science ®Google Scholar
• Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;5:162.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Fiorini M, Moin M, et al. Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol. 2006;141(4):408–414.
   PubMed Web of Science ®Google Scholar
• Mohammadzadeh I, Yeganeh M, Aghamohammadi A, et al. Severe primary antibody deficiency due to a novel mutation of mu heavy chain. J Investig Allergol Clin Immunol. 2012;22(1):78–79.
   PubMed Web of Science ®Google Scholar
• Mohammadzadeh I, Yeganeh M, Khaledi M, et al. Debilitating progressive encephalitis in a patient with BTK deficiency. Acta Microbiol Immunol Hung. 2012;59(3):335–342.
   PubMed Web of Science ®Google Scholar
• Teimourian S, Nasseri S, Pouladi N, et al. Genotype-phenotype correlation in Bruton’s tyrosine kinase deficiency. J Pediatr Hematol Oncol. 2008;30(9):679–683.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Parvaneh N, Kanegana H, et al. Screening of the Bruton tyrosine kinase (BTK) gene mutations in 13 Iranian patients with presumed X-linked agammaglobulinemia. Iran J Allergy Asthma Immunol. 2004;3(4):175–179.
   PubMedGoogle Scholar
• Nasseri S, Sorouri R, Pourpak Z, et al. Molecular characterization of Bruton’s tyrosine kinase deficiency in 12 Iranian patients with presumed X-linked agammaglobulinemia. J Investig Allergol Clin Immunol. 2011;21(7):572–574.
   PubMed Web of Science ®Google Scholar
• Behniafard N, Aghamohammadi A, Abolhassani H, et al. Autoimmunity in X-linked agammaglobulinemia: Kawasaki disease and review of the literature. Expert Rev Clin Immunol. 2012;8(2):155–159.
   PubMed Web of Science ®Google Scholar
• Abolhassani H, Hirbod-Mobarakeh A, Shahinpour S, et al. Mortality and morbidity in patients with X-linked agammaglobulinaemia. Allergol Immunopathol (Madr). 2015;43(1):62–66.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Mohammadinejad P, Abolhassani H, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. J Clin Immunol. 2014;34(4):478–490.
   PubMed Web of Science ®Google Scholar
• Bykowsky MJ, Haire RN, Ohta Y, et al. Discordant phenotype in siblings with X-linked agammaglobulinemia. Am J Hum Genet. 1996;58(3):477–483.
   PubMed Web of Science ®Google Scholar
• Shaghaghi M, Parvaneh N, Ostad-Rahimi P, et al. Combined immunodeficiency presenting with vaccine-associated paralytic poliomyelitis: a case report and narrative review of literature. Immunol Invest. 2014;43(3):292–298.
   PubMed Web of Science ®Google Scholar
• Takada H, Kanegane H, Nomura A, et al. Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation. Blood. 2004;103(1):185–187.
   PubMed Web of Science ®Google Scholar
• Conley ME, Fitch-Hilgenberg ME, Cleveland JL, et al. Screening of genomic DNA to identify mutations in the gene for Bruton’s tyrosine kinase. Hum Mol Genet. 1994;3(10):1751–1756.
   PubMed Web of Science ®Google Scholar
• Morwood K, Bourne H, Gold M, et al. Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia. J Allergy Clin Immunol. 2004;113(4):783–785.
   PubMed Web of Science ®Google Scholar
• Lindvall JM, Blomberg KE, Valiaho J, et al. Bruton’s tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol Rev. 2005;203:200–215.
   PubMed Web of Science ®Google Scholar
• Conley ME, Broides A, Hernandez-Trujillo V, et al. Genetic analysis of patients with defects in early B-cell development. Immunol Rev. 2005;203:216–234.
   PubMed Web of Science ®Google Scholar