Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing
暂无分享,去创建一个
L. Moradi | B. Grimbacher | S. Bahram | Zahra Alizadeh | R. Carapito | Z. Pourpak | M. Fazlollahi | M. Movahedi | M. Fallahpour | M. Badalzadeh | M. Shariat | Marzieh Mazinani | Hanieh Heydarlou | A. Molitor | A. C. G. de Oteyza | Michele Proietti | Maryam Soleimani Bavani | Anne Molitor
[1] L. Notarangelo,et al. Outcomes Following Treatment for Adenosine Deaminase Deficient Severe Combined Immunodeficiency: A Report from the PIDTC. , 2022, Blood.
[2] S. Barış,et al. Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency , 2022, Journal of Clinical Immunology.
[3] E. Perez. Future of Therapy for Inborn Errors of Immunity , 2022, Clinical Reviews in Allergy & Immunology.
[4] L. Opitz,et al. Whole‐exome sequencing of T‐B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants , 2020, Clinical and experimental immunology.
[5] C. Cunningham-Rundles,et al. Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry , 2020, Journal of Clinical Immunology.
[6] S. McGrath-Morrow,et al. DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype , 2020, Scientific Reports.
[7] Jinqiao Sun,et al. LIG4 syndrome: clinical and molecular characterization in a Chinese cohort , 2020, Orphanet Journal of Rare Diseases.
[8] J. Casanova,et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification , 2020, Journal of Clinical Immunology.
[9] E. Secord,et al. Newborn Screening for Severe Combined Immunodeficiency. , 2019, Pediatric clinics of North America.
[10] Ji Chen,et al. Disseminated Bacille Calmette‐Guérin infection in a patient with severe combined immunodeficiency caused by JAK3 gene mutation , 2019, Pediatric dermatology.
[11] G. Giardino,et al. Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network , 2019, Front. Immunol..
[12] J. Barata,et al. Flip the coin: IL-7 and IL-7R in health and disease , 2019, Nature Immunology.
[13] L. Hammarström,et al. IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature , 2019, Allergy, Asthma & Clinical Immunology.
[14] L. Notarangelo,et al. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). , 2019, The Journal of allergy and clinical immunology.
[15] J. Walter,et al. Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies. , 2018, The journal of allergy and clinical immunology. In practice.
[16] Alexandros Kouris,et al. VarSome: the human genomic variant search engine , 2018, bioRxiv.
[17] A. Kolios,et al. Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C , 2018, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.
[18] Michael Seleman,et al. A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. , 2017, Clinical immunology.
[19] C. Bacchelli,et al. Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency , 2017, The Journal of allergy and clinical immunology.
[20] A. Gennery,et al. DNA ligase IV syndrome; a review , 2016, Orphanet Journal of Rare Diseases.
[21] M. Sigvardsson,et al. Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT , 2016, The Journal of experimental medicine.
[22] L. Notarangelo,et al. Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals , 2016, Journal of Clinical Immunology.
[23] Y. Barak,et al. Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype. , 2016, Clinical immunology.
[24] A. Schäffer,et al. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. , 2015, Human molecular genetics.
[25] A. Fischer,et al. Severe combined immunodeficiencies and related disorders , 2015, Nature Reviews Disease Primers.
[26] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[27] L. Notarangelo,et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. , 2014, The Journal of allergy and clinical immunology.
[28] J. Verbsky,et al. Newborn Screening for Severe Combined Immunodeficiency , 2013 .
[29] L. Notarangelo,et al. Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment. , 2013, The Journal of allergy and clinical immunology.
[30] K. Schwarz,et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. , 2011, Clinical immunology.
[31] R. Abraham,et al. Functional analysis of LAT in TCR-mediated signaling pathways using a LAT-deficient Jurkat cell line. , 1999, International immunology.
[32] Eric O Long,et al. Essential role of LAT in T cell development. , 1999, Immunity.
[33] S. Ozen,et al. A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet’s Disease , 2018, Journal of Clinical Immunology.
[34] M. Eslamian,et al. Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. , 2017, Journal of investigational allergology & clinical immunology.
[35] E. Brooks,et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. , 2001, Blood.