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Niraj Patel

Instructor Temporary in the Department of Pediatrics
Pediatrics, Rheumatology

Selected Publications


Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies.

Journal Article J Clin Immunol · October 2023 Primary immunodeficiency disease (PIDD) comprises a group of disorders of immune function. Some of the most severe PIDD can be treated with hematopoietic cell transplant (HCT). Hizentra® is a 20% liquid IgG product approved for subcutaneous administration ... Full text Link to item Cite

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Journal Article J Allergy Clin Immunol · April 2023 BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal ... Full text Link to item Cite

Systemic IgG exposure and safety in patients with primary immunodeficiency: a randomized crossover study comparing a novel investigational wearable infusor versus the Crono pump.

Journal Article Immunotherapy · November 2022 Aim: A novel, Investigational Wearable Infusor (IWI) was evaluated in a randomized, controlled, crossover, open-label study to determine if its delivery of subcutaneous immunoglobulin (IgPro20) achieved a comparable area under the concentration-time curve ... Full text Link to item Cite

Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry.

Journal Article J Allergy Clin Immunol Pract · May 2022 BACKGROUND: Optimal management of patients with combined immunodeficiency, especially pertaining to hematopoietic stem cell transplantation (HSCT), remains unclear. OBJECTIVE: To identify factors influencing HSCT and mortality in the population with combin ... Full text Link to item Cite

High risk of relapsed disease in patients with NK/T-cell chronic active Epstein-Barr virus disease outside of Asia.

Journal Article Blood Adv · January 25, 2022 Chronic active Epstein-Barr virus (EBV) disease (CAEBV) is characterized by high levels of EBV predominantly in T and/or natural killer cells with lymphoproliferation, organ failure due to infiltration of tissues with virus-infected cells, hemophagocytic l ... Full text Link to item Cite

Safety and Tolerability of Subcutaneous IgPro20 at High Infusion Parameters in Patients with Primary Immunodeficiency: Findings from the Pump-Assisted Administration Cohorts of the HILO Study.

Journal Article J Clin Immunol · February 2021 PURPOSE: To evaluate the safety and tolerability of subcutaneous IgPro20 (Hizentra®, CSL Behring, King of Prussia, PA, USA) administered at high infusion parameters (> 25 mL and > 25 mL/h per injection site) in patients with primary immunodeficiency. METHO ... Full text Link to item Cite

Safety and Tolerability of Manual Push Administration of Subcutaneous IgPro20 at High Infusion Rates in Patients with Primary Immunodeficiency: Findings from the Manual Push Administration Cohort of the HILO Study.

Journal Article J Clin Immunol · January 2021 PURPOSE: To evaluate the safety and tolerability of IgPro20 manual push (also known as rapid push) infusions at flow rates of 0.5-2.0 mL/min. METHODS: Patients with primary immunodeficiency (PID) with previous experience administering IgPro20 (Hizentra®, C ... Full text Link to item Cite

Hemophagocytic Lymphohistiocytosis in Langerhans Cell Histiocytosis: A Case Report and Review of the Literature.

Journal Article J Pediatr Hematol Oncol · January 2021 A toddler undergoing treatment for refractory Langerhans cell histiocytosis (LCH) developed concurrent hemophagocytic lymphohistiocytosis (HLH). These are thought to be distinct histiocytic disorders, with different pathophysiologies, diagnostic criteria, ... Full text Link to item Cite

Subcutaneous Immunoglobulin Therapy with IgPro20 in Patients with Stiff Person Syndrome and Primary Immunodeficiency Disease.

Journal Article J Neuromuscul Dis · 2021 Stiff Person Syndrome (SPS), a rare autoimmune neurologic disorder characterized by fluctuating muscle spasms and rigidity, is mediated by autoantibodies to glutamic acid decarboxylase (GAD) antibodies. Symptoms of SPS have been shown to improve after admi ... Full text Link to item Cite

The economic implications of penicillin allergy.

Journal Article Ann Allergy Asthma Immunol · December 2020 Full text Link to item Cite

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Journal Article Journal of Allergy and Clinical Immunology · October 1, 2020 Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. Objective: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 muta ... Full text Cite

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Journal Article J Clin Invest · January 2, 2020 X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD) ... Full text Link to item Cite

Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies.

Journal Article J Clin Immunol · October 2023 Primary immunodeficiency disease (PIDD) comprises a group of disorders of immune function. Some of the most severe PIDD can be treated with hematopoietic cell transplant (HCT). Hizentra® is a 20% liquid IgG product approved for subcutaneous administration ... Full text Link to item Cite

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Journal Article J Allergy Clin Immunol · April 2023 BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal ... Full text Link to item Cite

Systemic IgG exposure and safety in patients with primary immunodeficiency: a randomized crossover study comparing a novel investigational wearable infusor versus the Crono pump.

Journal Article Immunotherapy · November 2022 Aim: A novel, Investigational Wearable Infusor (IWI) was evaluated in a randomized, controlled, crossover, open-label study to determine if its delivery of subcutaneous immunoglobulin (IgPro20) achieved a comparable area under the concentration-time curve ... Full text Link to item Cite

Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry.

Journal Article J Allergy Clin Immunol Pract · May 2022 BACKGROUND: Optimal management of patients with combined immunodeficiency, especially pertaining to hematopoietic stem cell transplantation (HSCT), remains unclear. OBJECTIVE: To identify factors influencing HSCT and mortality in the population with combin ... Full text Link to item Cite

High risk of relapsed disease in patients with NK/T-cell chronic active Epstein-Barr virus disease outside of Asia.

Journal Article Blood Adv · January 25, 2022 Chronic active Epstein-Barr virus (EBV) disease (CAEBV) is characterized by high levels of EBV predominantly in T and/or natural killer cells with lymphoproliferation, organ failure due to infiltration of tissues with virus-infected cells, hemophagocytic l ... Full text Link to item Cite

Safety and Tolerability of Subcutaneous IgPro20 at High Infusion Parameters in Patients with Primary Immunodeficiency: Findings from the Pump-Assisted Administration Cohorts of the HILO Study.

Journal Article J Clin Immunol · February 2021 PURPOSE: To evaluate the safety and tolerability of subcutaneous IgPro20 (Hizentra®, CSL Behring, King of Prussia, PA, USA) administered at high infusion parameters (> 25 mL and > 25 mL/h per injection site) in patients with primary immunodeficiency. METHO ... Full text Link to item Cite

Safety and Tolerability of Manual Push Administration of Subcutaneous IgPro20 at High Infusion Rates in Patients with Primary Immunodeficiency: Findings from the Manual Push Administration Cohort of the HILO Study.

Journal Article J Clin Immunol · January 2021 PURPOSE: To evaluate the safety and tolerability of IgPro20 manual push (also known as rapid push) infusions at flow rates of 0.5-2.0 mL/min. METHODS: Patients with primary immunodeficiency (PID) with previous experience administering IgPro20 (Hizentra®, C ... Full text Link to item Cite

Hemophagocytic Lymphohistiocytosis in Langerhans Cell Histiocytosis: A Case Report and Review of the Literature.

Journal Article J Pediatr Hematol Oncol · January 2021 A toddler undergoing treatment for refractory Langerhans cell histiocytosis (LCH) developed concurrent hemophagocytic lymphohistiocytosis (HLH). These are thought to be distinct histiocytic disorders, with different pathophysiologies, diagnostic criteria, ... Full text Link to item Cite

Subcutaneous Immunoglobulin Therapy with IgPro20 in Patients with Stiff Person Syndrome and Primary Immunodeficiency Disease.

Journal Article J Neuromuscul Dis · 2021 Stiff Person Syndrome (SPS), a rare autoimmune neurologic disorder characterized by fluctuating muscle spasms and rigidity, is mediated by autoantibodies to glutamic acid decarboxylase (GAD) antibodies. Symptoms of SPS have been shown to improve after admi ... Full text Link to item Cite

The economic implications of penicillin allergy.

Journal Article Ann Allergy Asthma Immunol · December 2020 Full text Link to item Cite

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Journal Article Journal of Allergy and Clinical Immunology · October 1, 2020 Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. Objective: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 muta ... Full text Cite

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Journal Article J Clin Invest · January 2, 2020 X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD) ... Full text Link to item Cite

Mutations in topoisomerase IIβ result in a B cell immunodeficiency.

Journal Article Nat Commun · August 13, 2019 B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B. ... Full text Link to item Cite

Chronic norovirus infection in primary immune deficiency disorders: an international case series.

Journal Article Diagn Microbiol Infect Dis · January 2019 OBJECTIVE: Predictive factors associated with clinical outcomes of chronic norovirus infection (CNI) in primary immunodeficiency diseases (PIDD) are lacking. METHOD: We sought to characterize CNI using a multi-institutional cohort of patients with PIDD and ... Full text Link to item Cite

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

Journal Article J Allergy Clin Immunol · November 2018 Treatment of the autoimmune and immune-dysregulatory features of patients with STAT1 GOF or STAT3 GOF disease remains challenging. Jakinibs have been used to treat the severe immune-dysregulation in patients with either STAT1 GOF or STAT3 GOF mutations. ... Full text Link to item Cite

Individualized immunoglobulin treatment in pediatric patients with primary humoral immunodeficiency disease.

Journal Article Pediatr Allergy Immunol · September 2018 Primary immunodeficiency diseases (PIDD) are a group of genetic conditions that are generally considered to be under-diagnosed, and gaps may exist in the knowledge of treatment options. This review focuses on the diagnosis of pediatric patients with primar ... Full text Link to item Cite

Answer to April 2018 Photo Quiz.

Journal Article J Clin Microbiol · April 2018 Full text Link to item Cite

Common variable immunodeficiency non-infectious disease endotypes redefined using unbiased network clustering in large electronic datasets

Journal Article Frontiers in Immunology · January 9, 2018 Common variable immunodeficiency (CVID) is increasingly recognized for its association with autoimmune and inflammatory complications. Despite recent advances in immunophenotypic and genetic discovery, clinical care of CVID remains limited by our inability ... Full text Cite

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

Journal Article J Allergy Clin Immunol Pract · 2018 BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. OBJECTIVE: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. METHODS: A query was submitted to ... Full text Link to item Cite

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

Journal Article Science Immunology · January 1, 2016 Recombination-activating genes 1 and 2 (RAG1 and RAG2) play a critical role in T and B cell development by initiating the recombination process that controls the expression of T cell receptor (TCR) and immunoglobulin genes. Mutations in the RAG1 and RAG2 g ... Full text Cite

Combined immunodeficiency in the United States and Kuwait: Comparison of patients' characteristics and molecular diagnosis.

Journal Article Clin Immunol · December 2015 AIM: To compare different variables among (S)CID patients diagnosed in the USA and Kuwait. METHODS: Review of patients registered in The US Immune Deficiency Network registry or Kuwait National PID Registry between 2004 and 2014. RESULTS: Totals of 98 and ... Full text Link to item Cite

Esophageal infections: an update.

Journal Article Curr Opin Pediatr · October 2015 PURPOSE OF REVIEW: Infectious esophagitis generally occurs in patients with impaired immunity. Although methods to suppress the immune system evolve, the potential infectious consequences are poorly understood. The purpose of this article is to review the ... Full text Link to item Cite

Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age.

Journal Article J Clin Immunol · August 2015 BACKGROUND: Hizentra® (IGSC 20%) is a 20% liquid IgG product approved for subcutaneous administration in adults and children 2 years of age and older who have primary immunodeficiency disease (PIDD). There is limited information about the use of IGSC 20 % ... Full text Link to item Cite

Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome.

Journal Article J Clin Immunol · July 2015 PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES), caused by mutations in Signal Transducer and Activator of Transcription 3 (STAT3) is associated with defective STAT3 signaling and Th17 differentiation and recurrent bacterial and fungal infections. ... Full text Link to item Cite

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Journal Article J Allergy Clin Immunol · April 2014 BACKGROUND: The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. ... Full text Link to item Cite

Small bowel infections

Chapter · January 1, 2014 DEFINITION Infections of the small intestine, including the duodenum, jejunum, and ileum, generally result from the ingestion of contaminated food or water. The majority of infections are caused by Escherichia coli, rotavirus, Giardia lamblia, and Cryptosp ... Full text Cite

Esophageal infections

Chapter · January 1, 2014 Barium esophagraphy details the mucosal lining, but an esophagram is not as sensitive as endoscopy for detailing infectious esophagitis. Lesions of HSV and CMV are usually limited to the mid and distal esophagus, whereas Candida spp. esophagitis may be mor ... Full text Cite

Subcutaneous immunoglobulin replacement therapy with Hizentra® is safe and effective in two infants.

Journal Article J Clin Immunol · June 2012 Hizentra® is a 20% liquid IgG product approved for subcutaneous administration in adults and children greater than 2 years of age. We report two infants less than 2 years in which administration of Hizentra® was safe and effective. ... Full text Link to item Cite

Vaccine-acquired rotavirus in infants with severe combined immunodeficiency

Journal Article New England Journal of Medicine · January 28, 2010 Live pentavalent human-bovine reassortant rotavirus vaccine is recommended in the United States for routine immunization of infants. We describe three infants, two with failure to thrive, who had dehydration and diarrhea within 1 month after their first or ... Full text Cite

Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning.

Journal Article J Allergy Clin Immunol · November 2009 BACKGROUND: The effect of pretransplantation conditioning on the long-term outcomes of patients receiving hematopoietic stem cell transplantation for severe combined immunodeficiency (SCID) has not been completely determined. OBJECTIVE: We sought to assess ... Full text Link to item Cite

Viral regulatory region effects on vertical transmission of polyomavirus SV40 in hamsters.

Journal Article Virology · March 30, 2009 Viral strain differences influence the oncogenic potential of polyomavirus simian virus 40 (SV40). We hypothesized that viral strain differences might also affect vertical transmission of SV40 in susceptible hosts. Pregnant Syrian golden hamsters were inoc ... Full text Link to item Cite

Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb.

Journal Article J Allergy Clin Immunol · December 2008 BACKGROUND: Between 1981 and 1995, 20 children with severe combined immunodeficiency (SCID; median age at transplant, 6.5 [range, 0.5-145] mo, 12 with serious infection) were treated with haploidentical T cell-depleted (anti-CD6 antibody) bone marrow (medi ... Full text Link to item Cite

Detection of polyomavirus SV40 in tonsils from immunocompetent children.

Journal Article J Clin Virol · September 2008 BACKGROUND: BK virus (BKV), JC virus (JCV) and simian virus 40 (SV40) are nonenveloped DNA viruses, members of the family Polyomaviridae. BK and JC viruses establish persistent infections in humans, and evidence suggests that SV40 can infect humans, as wel ... Full text Link to item Cite

Mycobacterium simiae cervical lymphadenitis.

Journal Article Pediatr Infect Dis J · April 2007 Mycobacterium simiae, a multidrug-resistant, opportunistic acid-fast bacillus, usually causes infection in immunocompromised hosts. We describe a previously healthy child with M. simiae necrotizing granulomatous cervical lymphadenitis. Cure was achieved wi ... Full text Link to item Cite

Unilateral shoulder swelling in a preterm neonate.

Journal Article Semin Pediatr Infect Dis · January 2005 Full text Link to item Cite

Denouement

Journal Article Seminars in Pediatric Infectious Diseases · January 1, 2005 Full text Cite

Vagal nerve stimulator pocket infections.

Journal Article Pediatr Infect Dis J · July 2004 Vagal nerve stimulator pocket infections are uncommon but can cause considerable morbidity. We describe 3 children from our institution and 8 others previously reported with infection after vagal nerve stimulator implantation for seizure control. Infection ... Full text Link to item Cite