Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Wed May 18 17:42:27 2022

(2019) Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. Journal of Allergy and Clinical Immunology-in Practice. 864-+. ISSN 2213-2198

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Abstract

BACKGROUND: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses. OBJECTIVE: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings. METHODS: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. RESULTS: Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase BTK and 6 mu heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with mu heavy chain and CD40 ligand mutations compared with patients with BTK (P = .003) and activation-induced cytidine deaminase (P = .009) mutations. Paralysis following live polio vaccination was considerably higher in patients with m heavy chain deficiency compared with BTK deficiency (P < .001). We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. Surprisingly, we noticed that first presentations in most patients with Immunodeficiency, Centromeric instability, and Facial dysmorphism were respiratory complications (P = .008), whereas first presentations in patients with lipopolysaccharides-responsive beige-like anchor deficiency were nonrespiratory complications (P = .008). CONCLUSIONS: This study highlights similarities and differences in the clinical and genetic spectrum of the most common PAD-associated gene defects. This comprehensive comparison will facilitate clinical decision making, and improve prognosis and targeted treatment. (C) 2018 American Academy of Allergy, Asthma & Immunology

Item Type: Article
Creators:
CreatorsEmail
Yazdani, R.UNSPECIFIED
Abolhassani, H.UNSPECIFIED
Kiaee, F.UNSPECIFIED
Habibi, S.UNSPECIFIED
Azizi, G.UNSPECIFIED
Tavakol, M.UNSPECIFIED
Chavoshzadeh, Z.UNSPECIFIED
Mahdaviani, S. A.UNSPECIFIED
Momen, T.UNSPECIFIED
Gharagozlou, M.UNSPECIFIED
Movahedi, M.UNSPECIFIED
Hamidieh, A. A.UNSPECIFIED
Behniafard, N.UNSPECIFIED
Nabavi, M.UNSPECIFIED
Bemanian, M. H.UNSPECIFIED
Arshi, S.UNSPECIFIED
Molatefi, R.UNSPECIFIED
Sherkat, R.UNSPECIFIED
Shirkani, A.UNSPECIFIED
Amin, R.UNSPECIFIED
Aleyasin, S.UNSPECIFIED
Faridhosseini, R.UNSPECIFIED
Jabbari-Azad, F.UNSPECIFIED
Mohammadzadeh, I.UNSPECIFIED
Ghaffari, J.UNSPECIFIED
Shafiei, A.UNSPECIFIED
Kalantari, A.UNSPECIFIED
Mansouri, M.UNSPECIFIED
Mesdaghi, M.UNSPECIFIED
Babaie, D.UNSPECIFIED
Ahanchian, H.UNSPECIFIED
Khoshkhui, M.UNSPECIFIED
Soheili, H.UNSPECIFIED
Eslamian, M. H.UNSPECIFIED
Cheraghi, T.UNSPECIFIED
Dabbaghzadeh, A.UNSPECIFIED
Tavassoli, M.UNSPECIFIED
Kalmarzi, R. N.UNSPECIFIED
Mortazavi, S. H.UNSPECIFIED
Kashef, S.UNSPECIFIED
Esmaeilzadeh, H.UNSPECIFIED
Tafaroji, J.UNSPECIFIED
Khalili, A.UNSPECIFIED
Zandieh, F.UNSPECIFIED
Sadeghi-Shabestari, M.UNSPECIFIED
Darougar, S.UNSPECIFIED
Behmanesh, F.UNSPECIFIED
Akbari, H.UNSPECIFIED
Zandkarimi, M.UNSPECIFIED
Abolnezhadian, F.UNSPECIFIED
Fayezi, A.UNSPECIFIED
Moghtaderi, M.UNSPECIFIED
Ahmadiafshar, A.UNSPECIFIED
Shakerian, B.UNSPECIFIED
Sajedi, V.UNSPECIFIED
Taghvaei, B.UNSPECIFIED
Safari, M.UNSPECIFIED
Heidarzadeh, M.UNSPECIFIED
Ghalebaghi, B.UNSPECIFIED
Fathi, S. M.UNSPECIFIED
Darabi, B.UNSPECIFIED
Bazregari, S.UNSPECIFIED
Bazargan, N.UNSPECIFIED
Fallahpour, M.UNSPECIFIED
Khayatzadeh, A.UNSPECIFIED
Javahertrash, N.UNSPECIFIED
Bashardoust, B.UNSPECIFIED
Zamani, M.UNSPECIFIED
Mohsenzadeh, A.UNSPECIFIED
Ebrahimi, S.UNSPECIFIED
Sharafian, S.UNSPECIFIED
Vosughimotlagh, A.UNSPECIFIED
Tafakoridelbari, M.UNSPECIFIED
Rahim, M.UNSPECIFIED
Ashournia, P.UNSPECIFIED
Razaghian, A.UNSPECIFIED
Rezaei, A.UNSPECIFIED
Samavat, A.UNSPECIFIED
Mamishi, S.UNSPECIFIED
Khazaei, H. A.UNSPECIFIED
Mohammadi, J.UNSPECIFIED
Negahdari, B.UNSPECIFIED
Parvaneh, N.UNSPECIFIED
Rezaei, N.UNSPECIFIED
Lougaris, V.UNSPECIFIED
Giliani, S.UNSPECIFIED
Plebani, A.UNSPECIFIED
Ochs, H. D.UNSPECIFIED
Hammarstrom, L.UNSPECIFIED
Aghamohammadi, A.UNSPECIFIED
Keywords: Primary immunodeficiency Primary antibody deficiencies Agammaglobulinemia Hyper-IgM syndrome Common variable immunodeficiency Sanger sequencing Next-generation sequencing hyper-igm syndrome x-linked agammaglobulinemia primary immunodeficiency diseases genotype-phenotype correlation molecular analysis clinical characteristics iranian patients genetic-analysis lrba deficiency mutations Allergy Immunology
Divisions:
Page Range: 864-+
Journal or Publication Title: Journal of Allergy and Clinical Immunology-in Practice
Journal Index: ISI
Volume: 7
Number: 3
Identification Number: https://doi.org/10.1016/j.jaip.2018.09.004
ISSN: 2213-2198
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/3747

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