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Case Report: Hypocomplementemic urticarial vasculitis syndrome in a pediatric patient with complement factor 1 deficiency

Frontiers in pediatrics, 2024-09, Vol.12, p.1448094

2024

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B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

The Journal of pediatrics, 2013-09, Vol.163 (3), p.847-854.e1

2013

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The Diagnostic Performance of Early Sjögren's Syndrome Autoantibodies in Juvenile Sjögren's Syndrome: The University of Florida Pediatric Cohort Study

Frontiers in immunology, 2021-06, Vol.12, p.704193-704193

2021

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Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

Molecular therapy. Methods & clinical development, 2023-09, Vol.30, p.303-314

2023

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Chronic Recurrent Multifocal Osteomyelitis Involving the Spine, Sternum, and Lower Extremities: A Case Report

Pediatrics (Evanston), 2024-10, Vol.154 (4), p.1

2024

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A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma ( NEMO)

American journal of human genetics, 2000-12, Vol.67 (6), p.1555-1562

2000

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BK viruria and viremia in children with systemic lupus erythematosus

Pediatric rheumatology online journal, 2017-04, Vol.15 (1), p.21-21, Article 21

2017

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Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies

The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-11

2024

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The first case of monozygotic twin boys with nearly identical features of Sjögren’s syndrome

Rheumatology (Oxford, England), 2020-03, Vol.59 (3), p.687-688

2020

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Bortezomib is efficacious in the treatment of severe childhood-onset neuropsychiatric systemic lupus erythematosus with psychosis: a case series and mini-review of B-cell immunomodulation in antibody-mediated diseases

Clinical rheumatology, 2023-07, Vol.42 (7), p.1965-1979

2023

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Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

American journal of human genetics, 2019-09, Vol.105 (3), p.549-561

2019

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Rituximab as Adjunct Maintenance Therapy for Refractory Juvenile Myasthenia Gravis

Pediatric neurology, 2020-10, Vol.111, p.40-43

2020

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Persistence of Vaccine-Derived Polioviruses among Immunodeficient Persons with Vaccine-Associated Paralytic Poliomyelitis

The Journal of infectious diseases, 2003-12, Vol.188 (12), p.1845-1852

2003

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Early Outcomes in Children With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis

Arthritis & rheumatology (Hoboken, N.J.), 2017-07, Vol.69 (7), p.1470-1479

2017

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Pompe disease gene therapy: Gene Therapy

Human molecular genetics, 2011-04, Vol.20 (1), p.R61-R68

2011

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End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency

Clinical nephrology. Case studies, 2019-02, Vol.7 (1), p.1-6

2019

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Acute-onset opioid-induced hyperalgesia in a child with juvenile idiopathic arthritis

Journal of clinical rheumatology, 2012-10, Vol.18 (7), p.349-351

2012

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The family journey-to-diagnosis with systemic juvenile idiopathic arthritis: a cross-sectional study of the changing social media presence

Open access rheumatology: research and reviews, 2016-01, Vol.8 (Issue 1), p.61-71

2016

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ZAP-70 Deficiency in an Autosomal Recessive Form of Severe Combined Immunodeficiency

Science (American Association for the Advancement of Science), 1994-06, Vol.264 (5165), p.1599-1601

1994

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Distinct T Cell Developmental Consequences in Humans and Mice Expressing Identical Mutations in the DLAARN Motif of ZAP-70

The Journal of immunology (1950), 2001-01, Vol.166 (1), p.656-661

2001

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T-CELL IMMUNODEFICIENCIES

The Pediatric clinics of North America, 2000-12, Vol.47 (6), p.1253-1274

Elder, Melissa E.

2000

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Myositis‐Associated Autoantibodies in Patients With Juvenile Myositis Are Associated With Refractory Disease and Mortality

Arthritis & rheumatology (Hoboken, N.J.), 2024-06, Vol.76 (6), p.963-972

2024

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Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system

American journal of medical genetics. Part A, 2007-05, Vol.143A (9), p.925-932

2007

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Early Illness Features Associated With Mortality in the Juvenile Idiopathic Inflammatory Myopathies

Arthritis care & research (2010), 2014-05, Vol.66 (5), p.732-740

2014

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Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70

Pediatric research, 1996-05, Vol.39 (5), p.743-748

ELDER, M. E

1996

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Case Report: Hypocomplementemic urticarial vasculitis syndrome in a pediatric patient with complement factor 1 deficiency

B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

The Diagnostic Performance of Early Sjögren's Syndrome Autoantibodies in Juvenile Sjögren's Syndrome: The University of Florida Pediatric Cohort Study

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

Chronic Recurrent Multifocal Osteomyelitis Involving the Spine, Sternum, and Lower Extremities: A Case Report

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma ( NEMO)

BK viruria and viremia in children with systemic lupus erythematosus

Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies

The first case of monozygotic twin boys with nearly identical features of Sjögren’s syndrome

Bortezomib is efficacious in the treatment of severe childhood-onset neuropsychiatric systemic lupus erythematosus with psychosis: a case series and mini-review of B-cell immunomodulation in antibody-mediated diseases

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

Rituximab as Adjunct Maintenance Therapy for Refractory Juvenile Myasthenia Gravis

Persistence of Vaccine-Derived Polioviruses among Immunodeficient Persons with Vaccine-Associated Paralytic Poliomyelitis

Early Outcomes in Children With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis

Pompe disease gene therapy: Gene Therapy

End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency

Acute-onset opioid-induced hyperalgesia in a child with juvenile idiopathic arthritis

The family journey-to-diagnosis with systemic juvenile idiopathic arthritis: a cross-sectional study of the changing social media presence

ZAP-70 Deficiency in an Autosomal Recessive Form of Severe Combined Immunodeficiency

Distinct T Cell Developmental Consequences in Humans and Mice Expressing Identical Mutations in the DLAARN Motif of ZAP-70

T-CELL IMMUNODEFICIENCIES

Myositis‐Associated Autoantibodies in Patients With Juvenile Myositis Are Associated With Refractory Disease and Mortality

Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system

Early Illness Features Associated With Mortality in the Juvenile Idiopathic Inflammatory Myopathies

Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70

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