Michael S. Hershfield
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View article: Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening
Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening Open
Standard newborn screening using T cell receptor excision circles (TRECs) failed to detect delayed-onset ADA deficiency in two cases. Retrospective mass spectrometry (MS/MS) analysis showed diagnostic deoxyadenosine elevation at birth. We …
View article: Diagnostic implications and correlates of plasma ADA2 activity and ADA2 variants
Diagnostic implications and correlates of plasma ADA2 activity and ADA2 variants Open
Objectives Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characte…
View article: Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges
Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges Open
Background Adenosine deaminase 2 deficiency (DADA-2) is an autoinflammatory syndrome caused by mutations in the ADA2 gene. ADA-2 functions as an enzyme in purine metabolism and is presumed to play roles in immune regulation. The clinical s…
View article: The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2 Open
The SCID-specific variant curation guidelines developed by the SCID-VCEP will enhance the precision of SCID genetic diagnosis and provide a robust framework for interpreting variants in SCID-related genes, contributing to appropriate treat…
View article: Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study Open
Purine nucleoside phosphorylase (PNP) deficiency causes inadequate purine metabolite detoxification, leading to combined immunodeficiency and variable neurological symptoms. Hematopoietic stem cell transplantation (HCT) cures the immunodef…
View article: Newborn Screening for Inborn Errors of Immunity via Whole-Genome Sequencing: A Pilot Study
Newborn Screening for Inborn Errors of Immunity via Whole-Genome Sequencing: A Pilot Study Open
Newborn screening by T cell receptor excision circle (TREC) measurement has transformed the care of severe combined immunodeficiency disease (SCID) by identifying babies and intervening prior to symptoms and/or infection. Many other inborn…
View article: Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy
Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy Open
Purpose The safety and tolerability of elapegademase (elapegademase-lvlr; Revcovi ® ) a PEGylated recombinant adenosine deaminase (ADA), were demonstrated in two Phase 3 clinical trials in the U.S. and Japan in patients with ADA-deficient …
View article: Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency
Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency Open
View article: Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants
Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants Open
For ADA deficiency, pathogenicity is a continuum and conditional, depending on the total ADA activity contributed by both inherited variants as indicated by GC rank. However, in patients with indeterminate phenotype identified by screening…
View article: Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency Open
View article: Adenosine Deaminase (ADA) Deficiency: A functional in vitro assay to assess the pathogenicity potential of 44 novel ADA gene variants of unknown significance (VUS).
Adenosine Deaminase (ADA) Deficiency: A functional in vitro assay to assess the pathogenicity potential of 44 novel ADA gene variants of unknown significance (VUS). Open
View article: Neurologic Status of Patients With Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
Neurologic Status of Patients With Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation Open
Background Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. The phenotype is profound T-cell deficiency with variable B- and NK-cell functions and results in recurrent and persistent…
View article: Evaluation and Management of Deficiency of Adenosine Deaminase 2
Evaluation and Management of Deficiency of Adenosine Deaminase 2 Open
Importance Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency affecting both children and adults. DADA2 is a…
View article: Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency
Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency Open
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including vasculitis, immunodeficiency, and hematologic manifestations, potentially progressing over tim…
View article: Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC Open
Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patien…
View article: Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients Open
View article: Polyethylene Glycol‐Like Brush Polymer Conjugate of a Protein Drug Does Not Induce an Antipolymer Immune Response and Has Enhanced Pharmacokinetics than Its Polyethylene Glycol Counterpart
Polyethylene Glycol‐Like Brush Polymer Conjugate of a Protein Drug Does Not Induce an Antipolymer Immune Response and Has Enhanced Pharmacokinetics than Its Polyethylene Glycol Counterpart Open
Protein therapeutics, except for antibodies, have a short plasma half‐life and poor stability in circulation. Covalent coupling of polyethylene glycol (PEG) to protein drugs addresses this limitation. However, unlike previously thought, PE…
View article: Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs
Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs Open
Introduction Humans have two adenosine deaminase isozymes, ADA1 and ADA2, which differ in affinity for their substrates, adenosine (Ado) and 2ʹdeoxyadenosine (dAdo), and their localization. Inherited deficiencies of ADA1 and ADA2 compromis…
View article: Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency Open
View article: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients Open
Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracran…
View article: Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy
Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy Open
View article: Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach Open
View article: Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency
Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency Open
Patients lacking functional adenosine deaminase activity have severe combined immunodeficiency (ADA SCID), which can be treated with ADA enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT), or autolo…
View article: Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency
Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency Open
Treatment of ADA-SCID with ex vivo lentiviral HSPC gene therapy resulted in high overall and event-free survival with sustained ADA expression, metabolic correction, and functional immune reconstitution. (Funded by the National Inst…
View article: Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference Open
View article: Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience Open
Background: Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or chronic multi-systemic inflammation. Objective: To describe spectrum…
View article: Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India Open
Background Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce…
View article: Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in <i>ADA2</i>
Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in <i>ADA2</i> Open
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of vasculitis that can resemble polyarteritis nodosa (PAN). This study was undertaken to identify potential disease‐causing sequence variants in ADA2 in patients wit…
View article: Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India
Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India Open
Objective Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatr…
View article: Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance Open