Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients

Moundir, Abderrahmane; Ouair, Hind; Jeddane, Leïla; Rada, Noureddine; Amenzoui, N.; Jouhadi, Z.; Adnane, F.; Hafidi, Naïma El; Kili, Amina; Drissi, Asmaa Bourhanbour; Babakhouya, Abdeladim; Benmiloud, Sarra; Hbibi, Mohamed; Benajiba, Noufissa; Hida, M.; Bouskraoui, M.; Mahraoui, Chafiq; Admou, Brahim; Bakkouri, Jalila El; Ailal, Fatima; Bousfiha, Ahmed Aziz

doi:10.1007/s10875-022-01398-z

Cited by 5 publications

(5 citation statements)

References 22 publications

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“…Furthermore, SNORA31, which was confirmed in our prognostic model, has been shown to control the intrinsic immune response of central nervous system neurons against HSV‐1 through a unique mechanism 38 . Additionally, it has also been associated with innate immune deficiencies 39 . Meanwhile, SNORD14E and SNORA5A have been identified as prognostic indicators in colorectal cancer and lung adenocarcinoma patients, respectively 40,41 .…”

Section: Discussionsupporting

confidence: 53%

“…38 Additionally, it has also been associated with innate immune deficiencies. 39 Meanwhile, SNORD14E and SNORA5A have been identified as prognostic indicators in colorectal cancer and lung adenocarcinoma patients, respectively. 40,41 All these findings highlight the significant research potential of snoRNAs in understanding immune regulation mechanisms and their role as important indicators of patient prognosis.…”

Section: Discussionmentioning

confidence: 99%

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Characterization the prognosis role and effects of snoRNAs in melanoma patients

Wang,

Song,

Chen

et al. 2023

Experimental Dermatology

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Melanoma is a melanocyte‐derived malignant cancer and is known for its early metastasis and high mortality rates. It is a highly cutaneous tumour disease that could be related to the abnormal immune microenvironment, and the identification of reliable diagnostic and prognostic markers is crucial for improving patient outcomes. In the search for biomarkers, various types of RNAs have been discovered and recognized as reliable prognostic markers. Among these, small nucleolar RNAs (snoRNAs) have emerged as a promising avenue for studying early diagnosis and prognostic markers in tumours due to their widespread presence in tissues, tumour specificity and stability. In our study, we analysed snoRNAs data from melanoma samples in the TCGA‐SKCM cohort and developed a prognostic model comprising 12 snoRNAs (SNORD9, SNORA31, SNORD14E, SNORA14A, SNORA5A, SNORD83A, SNORA75, AL096855, AC007684, SNORD14A, SNORA65 and AC004839). This model exhibited unique prognostic accuracy and demonstrated a significant correlation with the immune infiltration tumour microenvironment. Additionally, analysis of the GSE213145 dataset, which explored the sensitivity and resistance of immune checkpoint inhibitors, further supported the potential of snoRNAs as prognostic markers for immunotherapy. Overall, our study contributes reliable prognostic and immune‐related biomarkers for melanoma patients. These findings can offer valuable insights for the future discovery of novel melanoma treatment strategies and hold promise for improving clinical outcomes in melanoma patients.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Characterization the prognosis role and effects of snoRNAs in melanoma patients

Wang,

Song,

Chen

et al. 2023

Experimental Dermatology

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“…Because of the wide application of next-generation sequencing (NGS) for detecting genetic variants in IEI, genetic causes of IEI are now more correctly identified and more patients have been diagnosed (5)(6)(7)(8). Here, we present the genetic analysis of patients with IEI at a tertiary care hospital in Korea.…”

Section: Introductionmentioning

confidence: 99%

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

et al. 2023

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Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which defects in the immune system lead to an increased susceptibility to infections and other complications. Accurate, prompt diagnosis of IEI is crucial for treatment plan and prognostication. In this study, clinical utility of clinical exome sequencing (CES) for diagnosis of IEI was evaluated. For 37 Korean patients with suspected symptoms, signs, or laboratory abnormalities associated with IEI, CES that covers 4,894 genes including genes related to IEI was performed. Their clinical diagnosis, clinical characteristics, family history of infection, and laboratory results, as well as detected variants, were reviewed. With CES, genetic diagnosis of IEI was made in 15 out of 37 patients (40.5%). Seventeen pathogenic variants were detected from IEI-related genes, BTK, UNC13D, STAT3, IL2RG, IL10RA, NRAS, SH2D1A, GATA2, TET2, PRF1, and UBA1, of which four variants were previously unreported. Among them, somatic causative variants were identified from GATA2, TET2, and UBA1. In addition, we identified two patients incidentally diagnosed IEI by CES, which was performed to diagnose other diseases of patients with unrecognized IEI. Taken together, these results demonstrate the utility of CES for the diagnosis of IEI, which contributes to accurate diagnosis and proper treatments.

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“…This increase is mainly due to the enhanced ability to diagnose genetic disorders and a consequent surge in the reporting of such disorders within the past decade. With the advent and ease of access to technologies such as Whole Exome Sequencing (WES) and gene panel sequencing, diagnostic rates of genetic disorders have increased significantly ( Vaisitti et al, 2021 ; Sanchez-Luquez et al, 2022 ; Moundir et al, 2023 ). In fact, within our set of genetic disorders reported in the UAE, a significant portion comes from the utilization of such sequencing techniques on fairly large patient populations ( Al-Shamsi et al, 2016 ; Alsamri et al, 2020 ; Mahfouz et al, 2020 ; Saleh et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

et al. 2023

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Like many other Arab countries, the United Arab Emirates (UAE) has a relatively high prevalence of genetic disorders. Here we present the first review and analysis of all genetic disorders and gene variants reported in Emirati nationals and hosted on the Catalogue for Transmission Genetics in Arabs (CTGA), an open-access database hosting bibliographic data on human gene variants associated with inherited or heritable phenotypes in Arabs. To date, CTGA hosts 665 distinct genetic conditions that have been described in Emiratis, 621 of which follow a clear Mendelian inheritance. Strikingly, over half of these are extremely rare according to global prevalence rates, predominantly with an autosomal recessive mode of inheritance. This is likely due to the relatively high consanguinity rates within the Emirati population. The 665 conditions include disorders that are unique to the Emirati population, as well as clearly monogenic disorders that have not yet been mapped to a causal genetic locus. We also describe 1,365 gene variants reported in Emiratis, most of which are substitutions and over half are classified as likely pathogenic or pathogenic. Of these, 235 had not been reported on the international databases dbSNP and Clinvar, as of December 2022. Further analysis of this Emirati variant dataset allows a comparison of clinical significance as reported by Clinvar and CTGA, where the latter is derived from the study cited. A total of 307 pathogenic/likely pathogenic variants from CTGA’s Emirati dataset, were classified as benign, variants of uncertain significance, or were missing a clinical significance or had not been reported by Clinvar. In conclusion, we present here the spectrum of genetic disorders and gene variants reported in Emiratis. This review emphasizes the importance of ethnic databases such as CTGA in addressing the underrepresentation of Arab variant data in international databases and documenting population-specific discrepancies in variant interpretation, reiterating the value of such repositories for clinicians and researchers, especially when dealing with rare disorders.

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Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients

Cited by 5 publications

References 22 publications

Characterization the prognosis role and effects of snoRNAs in melanoma patients

Characterization the prognosis role and effects of snoRNAs in melanoma patients

Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

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