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  1. Article ; Online: Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.

    Alsohime, Fahad / Almaghamsi, Talal / Basha, Talal A / Alardati, Hosam / Alghamdi, Malak / Hawsawi, Yousef Mohammed

    Journal of clinical immunology

    2020  Volume 41, Issue 1, Page(s) 217–220

    MeSH term(s) Biomarkers ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Immunohistochemistry ; Lung Diseases/diagnosis ; Lung Diseases/genetics ; Mutation ; Perforin/genetics ; Phenotype ; Symptom Assessment ; Tomography, X-Ray Computed
    Chemical Substances Biomarkers ; PRF1 protein, human ; Perforin (126465-35-8)
    Keywords covid19
    Language English
    Publishing date 2020-09-28
    Publishing country Netherlands
    Document type Case Reports ; Letter
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-020-00870-y
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  2. Article ; Online: Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

    Alosaimi, Mohammed F / Hoenig, Manfred / Jaber, Faris / Platt, Craig D / Jones, Jennifer / Wallace, Jacqueline / Debatin, Klaus-Michael / Schulz, Ansgar / Jacobsen, Eva / Möller, Peter / Shamseldin, Hanan E / Abdulwahab, Ferdous / Ibrahim, Niema / Alardati, Hosam / Almuhizi, Faisal / Abosoudah, Ibraheem F / Basha, Talal A / Chou, Janet / Alkuraya, Fowzan S /
    Geha, Raif S

    The Journal of allergy and clinical immunology

    2019  Volume 144, Issue 2, Page(s) 574–583.e5

    Abstract: Background: The tumor TNF receptor family member 4-1BB (CD137) is encoded by TNFRSF9 and expressed on activated T cells. 4-1BB provides a costimulatory signal that enhances CD8: Objective: We investigated the genetic basis of recurrent sinopulmonary ... ...

    Abstract Background: The tumor TNF receptor family member 4-1BB (CD137) is encoded by TNFRSF9 and expressed on activated T cells. 4-1BB provides a costimulatory signal that enhances CD8
    Objective: We investigated the genetic basis of recurrent sinopulmonary infections, persistent EBV viremia, and EBV-induced lymphoproliferation in 2 unrelated patients.
    Methods: Whole-exome sequencing, immunoblotting, immunophenotyping, and in vitro assays of lymphocyte and mitochondrial function were performed.
    Results: The 2 patients shared a homozygous G109S missense mutation in 4-1BB that abolished protein expression and ligand binding. The patients' CD8
    Conclusion: This novel immunodeficiency demonstrates the critical role of 4-1BB costimulation in host immunity against EBV infection.
    MeSH term(s) B-Lymphocytes/immunology ; B-Lymphocytes/pathology ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/pathology ; Child, Preschool ; Epstein-Barr Virus Infections/genetics ; Epstein-Barr Virus Infections/immunology ; Epstein-Barr Virus Infections/pathology ; Female ; Herpesvirus 4, Human/genetics ; Herpesvirus 4, Human/immunology ; Humans ; Lymphoproliferative Disorders/genetics ; Lymphoproliferative Disorders/immunology ; Lymphoproliferative Disorders/pathology ; Lymphoproliferative Disorders/virology ; Male ; Mutation, Missense ; Primary Immunodeficiency Diseases/genetics ; Primary Immunodeficiency Diseases/immunology ; Primary Immunodeficiency Diseases/pathology ; Primary Immunodeficiency Diseases/virology ; Tumor Necrosis Factor Receptor Superfamily, Member 9/genetics ; Tumor Necrosis Factor Receptor Superfamily, Member 9/immunology ; Whole Exome Sequencing
    Chemical Substances TNFRSF9 protein, human ; Tumor Necrosis Factor Receptor Superfamily, Member 9
    Language English
    Publishing date 2019-03-11
    Publishing country United States
    Document type Clinical Trial ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2019.03.002
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  3. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Khaled, Musad Abu / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 105, Issue 4, Page(s) 879

    Language English
    Publishing date 2019-10-04
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.09.019
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  4. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Abu Khaled, Musad / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 104, Issue 6, Page(s) 1182–1201

    Abstract: We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we ... ...

    Abstract We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.
    MeSH term(s) Child ; Cohort Studies ; Consanguinity ; Female ; Genes, Recessive ; Genetic Diseases, X-Linked/epidemiology ; Genetic Diseases, X-Linked/genetics ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Male ; Mutation ; Phenotype ; Pregnancy ; Saudi Arabia/epidemiology ; Whole Exome Sequencing/methods
    Language English
    Publishing date 2019-05-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.04.011
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  5. Article ; Online: The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

    Monies, Dorota / Abouelhoda, Mohamed / AlSayed, Moeenaldeen / Alhassnan, Zuhair / Alotaibi, Maha / Kayyali, Husam / Al-Owain, Mohammed / Shah, Ayaz / Rahbeeni, Zuhair / Al-Muhaizea, Mohammad A / Alzaidan, Hamad I / Cupler, Edward / Bohlega, Saeed / Faqeih, Eissa / Faden, Maha / Alyounes, Banan / Jaroudi, Dyala / Goljan, Ewa / Elbardisy, Hadeel /
    Akilan, Asma / Albar, Renad / Aldhalaan, Hesham / Gulab, Shamshad / Chedrawi, Aziza / Al Saud, Bandar K / Kurdi, Wesam / Makhseed, Nawal / Alqasim, Tahani / El Khashab, Heba Y / Al-Mousa, Hamoud / Alhashem, Amal / Kanaan, Imaduddin / Algoufi, Talal / Alsaleem, Khalid / Basha, Talal A / Al-Murshedi, Fathiya / Khan, Sameena / Al-Kindy, Adila / Alnemer, Maha / Al-Hajjar, Sami / Alyamani, Suad / Aldhekri, Hasan / Al-Mehaidib, Ali / Arnaout, Rand / Dabbagh, Omar / Shagrani, Mohammad / Broering, Dieter / Tulbah, Maha / Alqassmi, Amal / Almugbel, Maisoon / AlQuaiz, Mohammed / Alsaman, Abdulaziz / Al-Thihli, Khalid / Sulaiman, Raashda A / Al-Dekhail, Wajeeh / Alsaegh, Abeer / Bashiri, Fahad A / Qari, Alya / Alhomadi, Suzan / Alkuraya, Hisham / Alsebayel, Mohammed / Hamad, Muddathir H / Szonyi, Laszlo / Abaalkhail, Faisal / Al-Mayouf, Sulaiman M / Almojalli, Hamad / Alqadi, Khalid S / Elsiesy, Hussien / Shuaib, Taghreed M / Seidahmed, Mohammed Zain / Abosoudah, Ibraheem / Akleh, Hana / AlGhonaium, Abdulaziz / Alkharfy, Turki M / Al Mutairi, Fuad / Eyaid, Wafa / Alshanbary, Abdullah / Sheikh, Farrukh R / Alsohaibani, Fahad I / Alsonbul, Abdullah / Al Tala, Saeed / Balkhy, Soher / Bassiouni, Randa / Alenizi, Ahmed S / Hussein, Maged H / Hassan, Saeed / Khalil, Mohamed / Tabarki, Brahim / Alshahwan, Saad / Oshi, Amira / Sabr, Yasser / Alsaadoun, Saad / Salih, Mustafa A / Mohamed, Sarar / Sultana, Habiba / Tamim, Abdullah / El-Haj, Moayad / Alshahrani, Saif / Bubshait, Dalal K / Alfadhel, Majid / Faquih, Tariq / El-Kalioby, Mohamed / Subhani, Shazia / Shah, Zeeshan / Moghrabi, Nabil / Meyer, Brian F / Alkuraya, Fowzan S

    Human genetics

    2017  Volume 136, Issue 8, Page(s) 921–939

    Abstract: In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period ...

    Abstract In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.
    MeSH term(s) Consanguinity ; Exome ; Female ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/epidemiology ; Genetic Testing ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Molecular Sequence Annotation ; Morbidity ; Mutation ; Phenotype ; Reproducibility of Results ; Saudi Arabia/epidemiology ; Sequence Analysis, DNA
    Language English
    Publishing date 2017-06-09
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-017-1821-8
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