2024
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.Peer-Reviewed Original ResearchExome sequencingConsanguineous Pakistani familyDisease-causing genesFamily segregation analysisAssociated with phenotypesAffected individualsAccurate molecular diagnosisACMG criteriaCandidate variantsGenomic studiesPakistani familyGenomic researchGenetic heterogeneityNovel variantsSegregation analysisConsanguineous familyGenetic variantsNeurodevelopmental disordersHomozygous variantNeuromuscular disordersMiddle-income countriesMolecular diagnosisExomeES dataClinical phenotype
2018
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation
Le Coz C, Nolan BE, Trofa M, Kamsheh AM, Khokha MK, Lakhani SA, Novelli A, Zackai EH, Sullivan KE, Briuglia S, Bhatti TR, Romberg N. Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. Frontiers In Immunology 2018, 9: 1715. PMID: 30087679, PMCID: PMC6066513, DOI: 10.3389/fimmu.2018.01715.Peer-Reviewed Original ResearchT cellsInflammatory diseasesLymphoid cellsT-lymphocyte-associated protein 4Type 3 innate lymphoid cellsMulti-organ inflammatory diseaseCTLA4-Ig monotherapyT-cell infiltratesInnate lymphoid cellsType V patientsT cell hyperproliferationReceptor-mediated activationT cell receptor-mediated activationILC3 frequenciesInterleukin-17A.Cell infiltrateCytokine concentrationsHistologic featuresInterleukin-22CTLA4 haploinsufficiencyClinical phenotypeB7 ligandsHeterozygous microdeletionReceptor CD28CD28