Iranian Genetic Testing Registry for Primary Immunodeficiencies
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Background
Genetic testing is a means of determining whether or not one is carrying a genetic mutation which has the potential to cause a medical condition. Nowadays genetic information is needed to diagnose, treat, and generally manage different diseases. So genetic testing of immunodeficiency (PID) disorders is also of importance, especially for decisive diagnosis as well as bone marrow transplantation. Registration of information based on genetics has potential benefits for families possessing individuals with that disease for both present and future. This registry aims to collect genetics information about PID patients and their families' members.
All of the Iranian patients suspected to PID who referred to immunology, asthma and allergy research institute (IAARI) between 2007 and 2016 have been investigated regarding to PID. After taking informed consent, screening tests for PID were performed completely. To begin, PCR for exons and exon-intron boundaries was performed. Then sequencing of PCR products was done to show whether there is any mutation in gene of interest. Genetics data of individuals after definite diagnosis were enrolled in the genetic registry.
 
Results
Genetic testing of 15 different PID diseases has been performed for more than 450 cases and collected in this registry. These 258 cases and their families had decisive mutation and genetic diagnosis. The rate of diseases were: Chronic Granulomatous Disease 22.17%, Severe Combined Immunodeficiency 21.33%, Wiskott-Aldrich syndrome 10.46%, Congenital Neutropenia 8.36%, Leukocyte Adhesion Deficiency 7.53%, Griscelli 5.85%,  Hemophagocytic Lymphohistiocytosis 5.23%, Angioedema 5.23%, Cystic Fibrosis 3.76%, Hyper IgE 2.92%, Hyper IgM 2.92%, X-linked Agammaglobulinemia 2.72%, Hermansky-Pudlak syndrome 0.83%, Ataxia-telangiectasia 0.41% and WHIM Syndrome 0.20%. This registry can be valuable for making aware of patients including decisive diagnosis, genetic counseling, carrier detection and prenatal diagnosis. Also this is a bank of data for some future researches. According to this registry, CGD and SCID are the most common PID in Iran. 
 
Publications
Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Zandieh F, Khandan S, Pourpak Z. A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran. Iran J Allergy Asthma Immunol. 2016 Oct;15(5):426-429.
 Taghizade Mortezaee F, Esmaeli B, Badalzadeh M, Ghadami M, Fazlollahi MR, Alizade Z, Hamidieh AA, Chavoshzadeh Z, Movahedi M, Heydarzadeh M, Sadeghi Shabestari M, Tavassoli M, Nabavi M, Nasiri Kalmarzi R, Pourpak Z. Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran. Arch Iran Med. 2015 Nov;18(11):760-4. doi: 0151811/AIM.006.
 Badalzadeh M, Fattahi F, Fazlollahi MR, Tajik S, Bemanian MH, Behmanesh F, Movahedi M, Houshmand M, Pourpak Z. Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox. Iran J Allergy Asthma Immunol. 2012 Dec;11(4):340-4. doi: 011.04/ijaai.340344.
 Fattahi F, Badalzadeh M, Sedighipour L, Movahedi M, Fazlollahi MR, Mansouri SD, Khotaei GT, Bemanian MH, Behmanesh F, Hamidieh AA, Bazargan N, Mamishi S, Zandieh F, Chavoshzadeh Z, Mohammadzadeh I, Mahdaviani SA, Tabatabaei SA, Kalantari N, Tajik S, Maddah M, Pourpak Z, Moin M. Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease. J Clin Immunol. 2011 Oct;31(5):792-801. doi: 10.1007/s10875-011-9567-x.
 Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D, Cheraghi T, Parvaneh N. Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. Br J Haematol. 2008 Jun;141(6):848-51. doi: 10.1111/j.1365-2141.2008.07148.x.
 Teimourian S, Rezvani Z, Badalzadeh M, Kannengiesser C, Mansouri D, Movahedi M, Zomorodian E, Parvaneh N, Mamishi S, Pourpak Z, Moin M. Molecular diagnosis of X-linked chronic granulomatous disease in Iran. Int J Hematol. 2008 May;87(4):398-404. doi: 10.1007/s12185-008-0060-0.
 Parvaneh N, Teimourian S, Jacomelli G, Badalzadeh M, Bertelli M, Zakharova E, Tabatabaei P, Parvaneh L, Pourakbari B, Yeganeh M, Tamizifar B, Mamishi S, Micheli V. Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. Clin Biochem. 2008 Mar;41(4-5):350-2.
 Esmaeili B, Ghadami M, Fazlollahi MR, Niroomanesh S, Atarod L, Chavoshzadeh Z, Moradi Z, Alizadeh Z, Pourpak Z. Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations). Iran J Allergy Asthma Immunol. 2014 Feb;13(1):61-5.
 Alizadeh Z, Fazlollahi MR, Houshmand M, Maddah M, Chavoshzadeh Z, Hamidieh AA, Shamsian BS, Eshghi P, Bolandghamat Pour S, Sadaaie Jahromi H, Mansouri M, Movahedi M, Nayebpour M, Pourpak Z, Moin M. Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations). Iran J Allergy Asthma Immunol. 2013 Mar;12(1):86-92. doi: 012.01/ijaai.8692.
 Alizadeh Z, Fazlollahi MR, Eshghi P, Hamidieh AA, Ghadami M, Pourpak Z. Two cases of syndromic neutropenia with a report of novel mutation in G6PC3. Iran J Allergy Asthma Immunol. 2011 Sep;10(3):227-30. doi: 010.03/ijaai.227230.
 Saghafi S, Pourpak Z, Nussbaumer F, Fazlollahi MR, Houshmand M, Hamidieh AA, Bemanian MH, Nabavi M, Parvaneh N, Grimbacher B, Moin M, Glocker C. DOCK8 deficiency in six Iranian patients. Clin Case Rep. 2016 May 17;4(6):593-600. doi: 10.1002/ccr3.574.
 
2017/2/14


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