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1.	Jamee, M, et al. (author) Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry 2022 In: Clinical immunology (Orlando, Fla.). - 1521-7035. ; 244, s. 109131- Journal article (peer-reviewed)
2.	Jamee, M, et al. (author) Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry 2022 In: Clinical immunology (Orlando, Fla.). - : Elsevier BV. - 1521-7035 .- 1521-6616. ; 244, s. 109131- Journal article (peer-reviewed)
3.	Gulez, N., et al. (author) Homozygosity For a Novel Mutation in the C1q C Chain Gene in a Turkish Family With Hereditary C1q Deficiency 2010 In: Journal of Investigational Allergology & Clinical Immunology. - 1698-0808. ; 20:3, s. 255-258 Journal article (peer-reviewed)abstract Hereditary complete deficiency of complement component C1q is associated with a high prevalence of systemic lupus erythematosus and increased susceptibility to severe recurrent infections. An 11-year-old girl was screened for immunodeficiency due to a history of recurrent meningitis and pneumonia. Immunologic studies revealed absence of classic pathway hemolytic activity and undetectable levels of C1q. Exon-specific amplification of genomic DNA by polymerase chain reaction followed by direct sequence analysis revealed a novel homozygous missense mutation at codon 48 in the C1q C gene causing a glycine-to-arginine substitution affecting the collagen-like region of C1q. No changes were seen in the exons of the A and B chains. The mutation affected both the formation and the secretion of C1q variant molecules. We describe a novel mutation in the C1q C chain gene that leads to an interchange in amino acids resulting in absence of C1q in serum.

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Gulez, N. (3); Rezaei, N (2); Abolhassani, H (2); Elghazali, G (2); Nasrullayeva, G (2); Chou, J (2); show more...; Momen, T (2); Azizi, G (2); Chavoshzadeh, Z (2); Mahdaviani, SA (2); Geha, RS (2); Sharafian, S (2); Al-Herz, W (2); Jamee, M (2); Baris, S (2); Tahiat, A (2); Shendi, HM (2); Belaid, B (2); Ben-Mustapha, I (2); Sobh, A (2); Al Farsi, T (2); Al-Tamemi, S (2); Kilic, SS (2); Artac, H (2); Boukari, R (2); Djidjik, R (2); Karakoc-Aydiner, E (2); Alzyoud, R (2); Barbouche, MR (2); Adeli, M (2); Ozen, A (2); Fallahi, M (2); Shamsian, BS (2); Kutukculer, N (2); Kose, H (2); Aygun, A (2); Karaca, NE (2); Al Sukait, N (2); Khalifa, N (2); Shereen, R (2); El-Ghoneimy, D (2); El-Owaidy, R (2); Radwan, N (2); Mekki, N (2); Rais, A (2); Belbouab, R (2); Djenouhat, K (2); Touri, S (2); Al-Hammadi, S (2); Alkuwaiti, A (2); show less...

University: Karolinska Institutet (2); Lund University (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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