Smita Y. Patel

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Neutrophil dysfunction 2 in IRAK-(4) deficiency

Adrian J. Thrasher, Siobhan O. Burns, G Bowna, 2008 .

COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience

Smita Y. Patel, A. Gennery, F. Dhalla, 2020, Journal of Allergy and Clinical Immunology.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Adult-onset immunodeficiency in Thailand and Taiwan.

Smita Y. Patel, M. Iadarola, S. Holland, 2012, The New England journal of medicine.

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Adeline R. Whitney, Smita Y. Patel, Steven M Holland, 2010, Blood.

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Smita Y. Patel, J. Knight, Anne-Kathrin Kienzler, 2015, Clinical immunology.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infections.

Smita Y. Patel, S. Holland, Smita Y Patel, 2005, Journal of immunology.

Anti-IFN-γ Autoantibodies in Disseminated Nontuberculous Mycobacterial Infections

Smita Y. Patel, S. Holland, Smita Y Patel, 2005, The Journal of Immunology.

Human immunodeficiencies that predispose to intracellular bacterial infections

Smita Y. Patel, Smita Y Patel, D. Kumararatne, 2005, Current opinion in rheumatology.

Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders

Smita Y. Patel, J. Knight, S. Salatino, 2021, Journal of Clinical Immunology.

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Smita Y. Patel, R. Xavier, S. Kugathasan, 2016, Gut.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Smita Y. Patel, R. Döffinger, J. Casanova, 2017, Blood.

Sequencing of human genomes with nanopore technology

Smita Y. Patel, P. Donnelly, C. Freeman, 2019, Nature Communications.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Smita Y. Patel, Steven M Holland, M. Raffeld, 2011, Blood.

A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease

Smita Y. Patel, B. Bauman, A. Snow, 2020, Journal of Clinical Immunology.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Andrew J. Oler, Smita Y. Patel, Ivan K. Chinn, 2019, The Journal of allergy and clinical immunology.

Key stages of bone marrow B-cell maturation are defective in patients with common variable immunodeficiency disorders.

Smita Y. Patel, M. van der Burg, E. López-Granados, 2015, The Journal of allergy and clinical immunology.

Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification

Smita Y. Patel, M. van der Burg, Smita Y Patel, 2018, Front. Immunol..

Impaired neutrophil migration and phagocytosis in IRAK‐4 deficiency

Smita Y. Patel, S. Burns, A. Thrasher, 2009, British journal of haematology.

Outcomes Following SARS-CoV-2 Infection in Patients With Primary and Secondary Immunodeficiency in The United Kingdom

Smita Y. Patel, F. Dhalla, Smita Y Patel, 2021 .

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

Smita Y. Patel, A. Fischer, J. Hugot, 2014, The Journal of allergy and clinical immunology.

Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts.

Smita Y. Patel, C. Cunningham-Rundles, É. Oksenhendler, 2012, The Journal of allergy and clinical immunology.

Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity.

Smita Y. Patel, D. Kumararatne, R. Doffinger, 2006, Microbes and infection.

Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience

Smita Y. Patel, P. Klenerman, Smita Y Patel, 2022, Frontiers in Immunology.

Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunodeficiency in perspective.

Smita Y. Patel, J. Litzman, Smita Y Patel, 2016, Clinical immunology.

Histology of Interstitial Lung Disease in Common Variable Immune Deficiency

Smita Y. Patel, F. Dhalla, Smita Y Patel, 2020, Frontiers in Immunology.

Defining B cell defects and correlation with complications in Common Variable Immune Deficiency patients.

Smita Y. Patel, H. Chapel, 2019, The Journal of allergy and clinical immunology.

Integrative therapies for multiple sclerosis.

Smita Y. Patel, Smita Y Patel, Geeta Maker-Clark, 2013, Disease-a-month : DM.

The Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and Management

Smita Y. Patel, S. Jolles, J. Carbone, 2019, Front. Immunol..

TBL1XR1-JAK2: a novel fusion in a pediatric T cell acute lymphoblastic leukemia patient with increased absolute eosinophil count

Smita Y. Patel, Smita Y Patel, L. Guarini, 2020, Journal of Hematopathology.

Antibody Deficiency Secondary to Chronic Lymphocytic Leukemia: Should Patients be Treated with Prophylactic Replacement Immunoglobulin?

Smita Y. Patel, F. Dhalla, Smita Y Patel, 2014, Journal of Clinical Immunology.

Hepatoportal venopathy due to disseminated Mycobacterium avium complex infection in a child with IFN-γ receptor 2 deficiency

Smita Y. Patel, S. Holland, Smita Y Patel, 2007, Virchows Archiv.

Dissecting the role of eosinophil cationic protein in upper airway disease

Smita Y. Patel, Smita Y Patel, D. Bishop-Bailey, 2012, Current opinion in allergy and clinical immunology.

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

Smita Y. Patel, Anne-Kathrin Kienzler, Jenny C. Taylor, 2016, Clinical immunology.

Evaluation of platelet count and platelet indices in patients with hyperlipidemia

Smita Y. Patel, Smita Y Patel, J. Patel, 2020 .

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.

Smita Y. Patel, A. Fischer, C. Picard, 2020, JCI insight.

Lymphoid Proliferations of Indeterminate Malignant Potential arising in Adults with Common Variable Immunodeficiency Disorders: Unusual Case Studies and Immunohistological Review in the Light of Possible Causative Events

Smita Y. Patel, E. Jaffe, C. Cunningham-Rundles, 2011, Journal of Clinical Immunology.

SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study

Smita Y. Patel, P. Klenerman, Smita Y Patel, 2022, Journal of Clinical Immunology.

Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD Study

Smita Y. Patel, P. Klenerman, M. Drayson, 2022, Frontiers in Immunology.

Screening for Immunodeficiencies in Children With Invasive Pneumococcal Disease: Six-year Experience From a UK Children’s Hospital

Smita Y. Patel, D. Kelly, J. Trück, 2022, The Pediatric infectious disease journal.

British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.

Smita Y. Patel, A. Nicholson, Smita Y Patel, 2017, The journal of allergy and clinical immunology. In practice.

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Edward A. Blair, Smita Y. Patel, A. Pagnamenta, 2019, Genome Medicine.

Mechanisms of disease: Atypical familial mycobacteriosis

Smita Y. Patel, S. Holland, Smita Y Patel, 2005 .

Establishment of a healthy human range for the whole blood 'OX40' assay for the detection of antigen-specific CD4+ T cells by flow cytometry.

Smita Y. Patel, R. Sadler, B. Ferry, 2014, Cytometry. Part B, Clinical cytometry.

Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.

Smita Y. Patel, F. Dhalla, Smita Y Patel, 2021, Clinical immunology.

Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease

Smita Y. Patel, R. Sadler, B. Ferry, 2014, Journal of Clinical Immunology.

Chest Complications in Patients with Primary Antibody Deficiency Syndromes (PADS)

Smita Y. Patel, H. Chapel, C. Anzilotti, 2018, Humoral Primary Immunodeficiencies.

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.

Smita Y. Patel, Anne-Kathrin Kienzler, A. Seller, 2016, The Journal of allergy and clinical immunology.

Nontuberculous Mycobacterial Infections Autoantibodies in Disseminated γ Anti-IFN-and

Smita Y. Patel, S. Holland, Smita Y Patel, 2005 .

Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunode ﬁ ciency in perspective Clinical Immunology

Smita Y. Patel, J. Litzman, Smita Y Patel, 2016 .

A comprehensive characterization of chronic norovirus infection in immunodeficient hosts

Smita Y. Patel, Sunando Roy, S. Burns, 2019, The Journal of allergy and clinical immunology.

Efficiency of immunoglobulin G replacement therapy in common variable immunodeficiency: correlations with clinical phenotype and polymorphism of the neonatal Fc receptor

Smita Y. Patel, É. Oksenhendler, S. Chevret, 2013, Clinical and experimental immunology.

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012

Smita Y. Patel, A. Gennery, S. Marshall, 2014, Clinical and experimental immunology.

Genetically determined susceptibility to mycobacterial infection

Smita Y. Patel, D. Kumararatne, R. Doffinger, 2008, Journal of Clinical Pathology.

Clinical and laboratory features of seventy‐eight UK patients with Good’s syndrome (thymoma and hypogammaglobulinaemia)

Smita Y. Patel, S. Burns, Anthony P. Williams, 2018, Clinical and experimental immunology.

The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017

Smita Y. Patel, A. Gennery, A. Worth, 2018, Clinical and experimental immunology.

Chronic mucocutaneous candidiasis: characterization of a family with STAT‐1 gain‐of‐function and development of an ex‐vivo assay for Th17 deficiency of diagnostic utility

Smita Y. Patel, J. Knight, R. Sadler, 2016, Clinical and experimental immunology.

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Edward A. Blair, Smita Y. Patel, A. Pagnamenta, 2019, Genome Medicine.

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Smita Y. Patel, A. Pagnamenta, Jenny C. Taylor, 2019, Front. Immunol..

Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK

Smita Y. Patel, F. Dhalla, N. Verma, 2022, Clinical and experimental immunology.

Establishment of a healthy human range for the whole blood “OX40” assay for the detection of antigen‐specific CD4+ T cells by flow cytometry

Smita Y. Patel, R. Sadler, B. Ferry, 2014, Cytometry. Part B, Clinical cytometry.

The primary immunodeficiency disorders

Smita Y. Patel, Smita Y Patel, A. Shields, 2017 .

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Smita Y. Patel, M. Raffeld, S. Pittaluga, 2011, Blood.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Smita Y. Patel, A. Nicholson, D. Rassl, 2017, The journal of allergy and clinical immunology. In practice.

Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunodeficiency in perspective.

Smita Y. Patel, J. Litzman, M. van Deuren, 2016, Clinical immunology.

Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?

Smita Y. Patel, K. Warnatz, S. Burns, 2018, Front. Immunol..