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

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Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects Publisher Pubmed

Abolhassani H^{1, 2} ; Vitali M³ ; Lougaris V³ ; Giliani S³ ; Parvaneh N¹ ; Parvaneh L¹ ; Mirminachi B¹ ; Cheraghi T⁴ ; Khazaei H⁵ ; Mahdaviani SA⁶ ; Kiaei F¹ ; Tavakolinia N¹ ; Mohammadi J⁷ ; Negahdari B⁸ Show All Authors

Abolhassani H^{1, 2}
Vitali M³
Lougaris V³
Giliani S³
Parvaneh N¹
Parvaneh L¹
Mirminachi B¹
Cheraghi T⁴
Khazaei H⁵
Mahdaviani SA⁶
Kiaei F¹
Tavakolinia N¹
Mohammadi J⁷
Negahdari B⁸
Rezaei N¹
Hammarstrom L²
Plebani A³
Aghamohammadi A¹

Show Affiliations

1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, 62 Qarib St., Keshavarz Blvd., Tehran, 14194, Iran
2. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
3. Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili, Brescia, Italy
4. Department of Pediatrics, Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran
5. Department of Immunology and Hematology, Zahedan Medical Sciences University, Zahedan, Iran
6. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
7. Department of Life Science, Faculty of New Science and Technology, University of Tehran, Tehran, Iran
8. School of Advanced Technologies in Medicine, Department of Medical Biotechnology, Tehran University of Medical Sciences, Tehran, Iran

Source: Expert Review of Clinical Immunology Published:2016

Abstract

Objectives: Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Brutons-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this defect in patients with agammaglobulinemia. Methods: Iranian patients with congenital agammaglobulinemia were included and the correlation between disease-causing mutations and parameters such as clinical and immunologic phenotypes were evaluated in available patients. Results: Out of 87 patients, a molecular investigation was performed on 51 patients leading to identification of 39 cases with BTK (1 novel mutation), 5 cases of μ-heavy chain (3 novel mutations) and 1 case of Igα-deficiencies. Conclusion: Although there is no comprehensive correlation between type of responsible BTK mutation and severity of clinical phenotype, our data suggest that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly regarding clinical/immunologic characteristics. © 2016 Taylor & Francis.

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Style	Citing Format
MLA	Abolhassani H, et al.. "Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects." Expert Review of Clinical Immunology, vol. 12, no. 4, 2016, pp. 479-486.
APA	Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, Mirminachi B, Cheraghi T, Khazaei H, Mahdaviani SA, Kiaei F, Tavakolinia N, Mohammadi J, Negahdari B, Rezaei N, Hammarstrom L, Plebani A, Aghamohammadi A (2016). Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects. Expert Review of Clinical Immunology, 12(4), 479-486.
Chicago	Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, Mirminachi B, et al.. "Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects." Expert Review of Clinical Immunology 12, no. 4 (2016): 479-486.
Harvard	Abolhassani H et al. (2016) 'Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects', Expert Review of Clinical Immunology, 12(4), pp. 479-486.
Vancouver	Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, et al.. Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects. Expert Review of Clinical Immunology. 2016;12(4):479-486.
BibTex	@article{ author = {Abolhassani H and Vitali M and Lougaris V and Giliani S and Parvaneh N and Parvaneh L and Mirminachi B and Cheraghi T and Khazaei H and Mahdaviani SA and Kiaei F and Tavakolinia N and Mohammadi J and Negahdari B and Rezaei N and Hammarstrom L and Plebani A and Aghamohammadi A}, title = {Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects}, journal = {Expert Review of Clinical Immunology}, volume = {12}, number = {4}, pages = {479-486}, year = {2016} }
RIS	TY - JOUR AU - Abolhassani H AU - Vitali M AU - Lougaris V AU - Giliani S AU - Parvaneh N AU - Parvaneh L AU - Mirminachi B AU - Cheraghi T AU - Khazaei H AU - Mahdaviani SA AU - Kiaei F AU - Tavakolinia N AU - Mohammadi J AU - Negahdari B AU - Rezaei N AU - Hammarstrom L AU - Plebani A AU - Aghamohammadi A TI - Cohort of Iranian Patients With Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects JO - Expert Review of Clinical Immunology VL - 12 IS - 4 SP - 479 EP - 486 PY - 2016 ER -

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