8,363 results match your criteria Hypogammaglobulinemia


Clinical and Genetic Study of X-linked Agammaglobulinemia Patients (The Benefit of Early Diagnosis).

Iran J Allergy Asthma Immunol 2020 Jun 23;19(3):305-309. Epub 2020 Jun 23.

Immunology, Asthma, and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by genetic defects in the Bruton tyrosine kinase (Btk) gene. XLA is characterized as an antibody deficiency by recurrent bacterial infections, the absence of peripheral B cells, and profound reductions in all immunoglobulin isotypes. This study aims to report the clinical and genetic features of five Iranian patients with XLA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18502/ijaai.v19i3.3458DOI Listing

Propensity Score Methods in Rare Disease. A Demonstration Using Observational Data in Systemic Lupus Erythematosus.

J Rheumatol 2020 Jul 1. Epub 2020 Jul 1.

From the Division of Rheumatology, Department of Medicine, University of Toronto, Toronto, Canada; Centre for Prognosis in Rheumatic Diseases, University Health Network, Toronto, Canada; Rheumatology Unit, Department of Medicine, King Saud University, Saudi Arabia; College of Medicine Research Center, King Saud University, Saudi Arabia; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; The Krembil Research Institute, University Health Network, Toronto, Canada; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada; Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, Ontario, Canada. Dr. Johnson is a site investigator for Scleroderma clinical trials supported by Boehringer Ingelheim, Bayer, Corbus and GlaxoSmithKline. Address correspondence to Sindhu Johnson MD PhD, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada.

Observational studies allow researchers to understand the natural history of rheumatic conditions, risk factors for disease development, factors affecting important disease-related outcomes and estimate treatment effect from real world data. However, this design carries a risk of confounding bias. A propensity score is a balancing score that aims to minimize the difference between study groups and consequently potential confounding effects. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3899/jrheum.200254DOI Listing

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.

J Clin Immunol 2020 Jun 27. Epub 2020 Jun 27.

Departamento de Nefrología, Hospital Universitario de Santiago, Santiago de Compostela, Spain.

Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation having been reported. The objective of this study was to investigate primary immunodeficiency (PID) and immune dysregulation in an international cohort of patients with RSTS. All published cases of RSTS were identified. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-020-00808-4DOI Listing

Attenuation of antibody response to SARS-CoV-2 in a patient on ocrelizumab with hypogammaglobulinemia.

Authors:
William L Conte

Mult Scler Relat Disord 2020 Jun 20;44:102315. Epub 2020 Jun 20.

Comprehensive MS Center, Methodist Hospitals, 200 E 89th Ave, Merrillville IN 46410, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.msard.2020.102315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305883PMC

Lipopolysaccharide responsive beige-like anchor act as a cAMP-dependent Protein Kinase Anchoring protein in B cells.

Scand J Immunol 2020 Jun 26:e12922. Epub 2020 Jun 26.

Unidad de Investigacion en Inmunodeficiencias, Instituto Nacional de Pediatria, Mexico City, Mexico.

Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein was initially described as a monogenetic cause for Common Variable Immune Deficiency, a syndrome characterized by low levels of B-cells, defects in memory B-cell differentiation, and hypogammaglobulinemia. LRBA was identified as an LPS-up-regulated gene in B-cells, macrophages, and T-cells. LRBA weighs 320 kDa and has 2863 amino acids. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/sji.12922DOI Listing

Dysfunctional Immune System Reconstitution After Rituximab Exposure In Utero.

J Pediatr Hematol Oncol 2020 Jun 23. Epub 2020 Jun 23.

Pediatric Hematology and Oncology, Walter Reed National Military Medical Center.

Rituximab is an antibody that binds to B-lymphocytes and is increasingly used during pregnancy. As an immunoglobulin G, it will transfer across the placenta. Previous case reports describe a diversity of clinical presentations in neonates born following rituximab exposure in utero. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000001871DOI Listing

Discontinuation of Immunoglobulin Replacement Therapy in Patients with Secondary Antibody Deficiency.

Expert Rev Clin Immunol 2020 Jun 26. Epub 2020 Jun 26.

Division of Infectious Diseases, Department of Medicine, University of Ottawa , Ottawa, Canada.

Introduction: Secondary immunodeficiency is becoming a greater medical concern as the usage of immunosuppressive and biological treatments has increased. Individuals with certain medical conditions, such as hematological malignancies, can also have secondary immunodeficiency. Immunoglobulin replacement therapy (IGRT), which has been used for decades in inherited or primary immunodeficiency, provides some protection to patients with acquired and predominant antibody deficiency, i. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/1744666X.2020.1788939DOI Listing

Complement activation by human IgG antibodies to galactose-alpha-1,3-galactose.

Immunology 2020 Jun 24. Epub 2020 Jun 24.

Department of Biomedicine, Aarhus University, Aarhus N, Denmark.

Some human antibodies may paradoxically inhibit complement activation on bacteria and enhance pathogen survival in humans. This property was also claimed for IgG antibodies reacting with terminal Galα3Gal (IgG anti-αGal), a naturally occurring and abundant antibody in human plasma that targets numerous different pathogens. To reinvestigate these effects, we utilised IgG anti-αGal affinity isolated from a pool of normal human IgG and human hypogammaglobulinemia serum as a complement source. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/imm.13229DOI Listing

B Cell Disorders in Children-Part I.

Curr Allergy Asthma Rep 2020 Jun 23;20(9):52. Epub 2020 Jun 23.

Department of Pediatrics, Allergy-Immunology and Pediatric Rheumatology Division, Medical College of Georgia at Augusta University, 1120 15th Street, Augusta, GA, 30912, USA.

Purpose Of Review: The advent of enhanced genetic testing has allowed for the discovery of gene defects underlying two broad categories of antibody deficiency in children: agammaglobulinemia and common variable immunodeficiency (CVID). This review describes the underlying gene defects and the clinical manifestations.

Recent Findings: Because novel monogenetic defects have been discovered in both categories, a strict dichotomous classification of B cell disorders as either X-linked agammaglobulinemia or common variable immunodeficiency is no longer appropriate. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11882-020-00938-0DOI Listing

Rituximab in children with steroid sensitive nephrotic syndrome: in quest of the optimal regimen.

Pediatr Nephrol 2020 Jun 24. Epub 2020 Jun 24.

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Trust, London, UK.

Rituximab has emerged as an effective and important therapy in children with complicated frequently relapsing and steroid-dependent nephrotic syndrome to induce long-term disease remission and avoid steroid toxicities. The optimal rituximab regimen is not totally well defined, and there are many varying practices worldwide. We will in this review describe how patient factors, rituximab dose, and use of maintenance immunosuppression affect treatment outcomes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-020-04609-0DOI Listing

A tertiary center experience of multiple myeloma patients with COVID-19: lessons learned and the path forward.

medRxiv 2020 Jun 5. Epub 2020 Jun 5.

Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

Background: The COVID-19 pandemic, caused by SARS-CoV-2 virus, has resulted in over 100,000 deaths in the United States. Our institution has treated over 2,000 COVID-19 patients during the pandemic in New York City. The pandemic directly impacts cancer patients and the organization of cancer care. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/2020.06.04.20122846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302311PMC

Persistent hypogammaglobulinemia in pediatric solid organ transplant recipients.

Clin Transplant 2020 Jun 23:e14021. Epub 2020 Jun 23.

Department of Infectious Diseases, St. Jude Children's Research Hospital, Memphis, TN, United States.

Introduction: Hypogammaglobulinemia has not been well studied in transplanted children. We quantified plasma immunoglobulin (Ig) and lymphocyte phenotypes among 31 pediatric heart and kidney recipients for two years post-transplant and from 10 non-transplanted children.

Methods: Plasma IgM, IgG, and IgA were quantified by immunoturbidimetric assays, IgG subclasses were quantified by bead-based multiplex immunoassay, and lymphocyte phenotypes were assessed by flow cytometry. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ctr.14021DOI Listing

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.

Mayo Clin Proc 2020 Jun 19. Epub 2020 Jun 19.

Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN. Electronic address:

With the advent of precision genomics, hereditary predisposition to hematopoietic neoplasms- collectively known as hereditary predisposition syndromes (HPS)-are being increasingly recognized in clinical practice. Familial clustering was first observed in patients with leukemia, which led to the identification of several germline variants, such as RUNX1, CEBPA, GATA2, ANKRD26, DDX41, and ETV6, among others, now established as HPS, with tendency to develop myeloid neoplasms. However, evidence for hereditary predisposition is also apparent in lymphoid and plasma--cell neoplasms, with recent discoveries of germline variants in genes such as IKZF1, SH2B3, PAX5 (familial acute lymphoblastic leukemia), and KDM1A/LSD1 (familial multiple myeloma). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mayocp.2019.12.013DOI Listing

A case of X-linked agammaglobulinemia (XLA) masquerading X-linked Hyper IgM syndrome.

Authors:
Ejaz Yousef

Ann Allergy Asthma Immunol 2020 Jun 15. Epub 2020 Jun 15.

Division of Allergy and Immunology, Jacksonville, FL 32207. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.anai.2020.06.016DOI Listing

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.

BMC Med Genet 2020 Jun 17;21(1):131. Epub 2020 Jun 17.

The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University (Zhengzhou, China), No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.

Background: X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. However, the mutations reported to date do not fully explain the disorder. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-020-01063-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302398PMC

Good syndrome with cytomegalovirus hepatitis: successful resection of Thymoma: a case report.

J Cardiothorac Surg 2020 Jun 15;15(1):141. Epub 2020 Jun 15.

Division of Chest Surgery, Toho University School of Medicine, 6-11-1 Omori-nishi, Ota-ku, Tokyo, 143-8541, Japan.

Background: Good syndrome is a rare condition, manifesting as immunodeficiency due to hypogammaglobulinemia associated with thymoma. Herein, we present a patient with Good syndrome whose thymoma was resected after treatment of cytomegalovirus hepatitis.

Case Presentation: The patient was a 45-year-old woman presenting with fever, cough, and nasal discharge, and was diagnosed with thymoma and hypogammaglobulinemia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13019-020-01187-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296951PMC

Flow-cytometry as an auxiliary in the diagnosis of primary humoral immunodeficiencies.

Gac Med Mex 2020 ;156(3):194-200

Instituto Politécnico Nacional, Center of Research and Advanced Studies, Department of Molecular Biomedicine, Mexico City, Mexico.

Background: Antibody deficiencies encompass a wide spectrum of pathologies and constitute approximately 50 % of primary immunodeficiencies; with cytometry, it is possible to evaluate the immune status rapidly, effectively and at low cost.

Objective: To assess, by means of flow cytometry, the cells of patients with three types of primary humoral immunodeficiencies.

Method: Using flow cytometry, blood samples from patients and healthy subjects were analyzed with different monoclonal antibodies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24875/GMM.M20000386DOI Listing
January 2020

Clinical, Immunologic, and Molecular Spectrum of Patients with Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome: a Systematic Review.

Endocr Metab Immune Disord Drug Targets 2020 Jun 13. Epub 2020 Jun 13.

Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj. Iran.

Background: Immunodeficiency, centromeric instability and facial dysmorphism )ICF) syndrome is a rare autosomal recessive immune disorder presenting with hypogammaglobulinemia, developmental delay, and facial anomalies. The ICF type 1, type 2, type 3 and type 4 are characterized by mutations in DNMT3B, ZBTB24, CDCA7 or HELLS gene, respectively. This study aimed to present a comprehensive description of the clinical, immunologic and genetic features of patients with ICF syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1871530320666200613204426DOI Listing

Increased antiviral response in circulating lymphocytes from hypogammaglobulinemia patients.

Allergy 2020 Jun 13. Epub 2020 Jun 13.

Swiss Institute of Allergy and Asthma Research (SIAF), University of Zurich, Davos, Switzerland.

Background: B cells play a crucial role during rhinovirus (RV) infections by production of virus-neutralizing antibodies. A main feature of common variable immunodeficiency (CVID) is hypogammaglobulinemia (HG). HG patients have severely reduced levels of antibody-producing B cells and suffer from prolonged virus infections. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/all.14445DOI Listing

The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in Mutations?

Diseases 2020 Jun 9;8(2). Epub 2020 Jun 9.

Department of Neurology, Ulm University, 89081 Ulm, Germany.

Pathogenic variants in the are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31- year old female with insulin-dependent diabetes mellitus, recurrent lactic acidosis and ketoacidosis recurrent infections with suspected immunodeficiency with T cell lymphopenia and hypogammaglobulinemia as well as proximal tetraparesis with severe muscle and limb pain and rapid physical exhaustion. Muscle biopsy and respiratory chain activities were normal. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/diseases8020019DOI Listing

Identification of Umbre Orthobunyavirus as a Novel Zoonotic Virus Responsible for Lethal Encephalitis in 2 French Patients with Hypogammaglobulinemia.

Clin Infect Dis 2020 Jun 9. Epub 2020 Jun 9.

Pathogen Discovery Laboratory, Institut Pasteur, Paris, France.

Background: Human encephalitis represents a medical challenge from a diagnostic and therapeutic point of view. We investigated the cause of 2 fatal cases of encephalitis of unknown origin in immunocompromised patients.

Methods: Untargeted metatranscriptomics was applied on the brain tissue of 2 patients to search for pathogens (viruses, bacteria, fungi, or protozoans) without a prior hypothesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/cid/ciaa308DOI Listing

Tonsillar granuloma associated with hypogammaglobulinemia.

Allergy Asthma Clin Immunol 2020 29;16:43. Epub 2020 May 29.

Research Unit of Biomedicine, University of Oulu, Oulu, Finland.

Background: Rare tonsillar granulomas may be caused for example by infections, malignancies or sarcoidosis. Granulomas also occur in inborn errors of immunity (IEI) such as common variable immunodeficiency (CVID) with B cell maturation defects and hypogammaglobulinemia. CVID shares various features with sarcoidosis and drug-induced secondary hypogammaglobulinemia; careful consideration of differential diagnosis between these conditions is warranted. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13223-020-00441-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257222PMC

Rituximab for High-Risk, Mature B-Cell Non-Hodgkin's Lymphoma in Children.

N Engl J Med 2020 06;382(23):2207-2219

From the Departments of Pediatric and Adolescent Oncology (V.M.-C., C.P.) and Clinical Research (G.V.), INSERM Unité 1015 (V.M.-C.), and the Unit of Biostatistics and Epidemiology and INSERM Unité 1018 (A.A.), Gustave Roussy, Université Paris-Saclay, Villejuif, France; the Department of Pediatric Hematology and Oncology, University of Padua, Padua, Italy (M.P.); the Department of Paediatric Haematology, Oncology, and Palliative Care, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge (G.A.A.B.), Cancer Research UK Clinical Trials Unit, Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham (K.W.), and the Department of Histopathology, Royal Marsden NHS Foundation Trust, London (A.W.) - all in the United Kingdom; the Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles (D.A.B.); the Department of Pediatric Hematology and Oncology, University of Valencia, Valencia, Spain (R.F.D.); the Division of Haematology-Oncology, Hospital for Sick Children, Toronto (S.A.); the Department of Pediatric Hematology and Oncology, University Hospitals Leuven, Leuven, Belgium (A.U.); the Center for Cancer and Immunology Research, Children's National Health System and George Washington University, Washington, DC (C.M.B.); Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands (J.Z.); the Department of Pediatric Hematology and Oncology, Semmelweis University, Budapest, Hungary (M.C.); the Department of Pediatric Bone Marrow Transplantation, Oncology, and Hematology, Wroclaw Medical University, Wroclaw, Poland (B.K.); the Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong (A.K.C.); the Department of Pathology, University of Utah, Salt Lake City (R.R.M.); Children's Hospital of Philadelphia, Philadelphia (P.C.A.); and the National Cancer Institute, Center for Global Health, Rockville, MD (T.G.G.).

Background: Rituximab added to chemotherapy prolongs survival among adults with B-cell cancer. Data on its efficacy and safety in children with high-grade, mature B-cell non-Hodgkin's lymphoma are limited.

Methods: We conducted an open-label, international, randomized, phase 3 trial involving patients younger than 18 years of age with high-risk, mature B-cell non-Hodgkin's lymphoma (stage III with an elevated lactate dehydrogenase level or stage IV) or acute leukemia to compare the addition of six doses of rituximab to standard lymphomes malins B (LMB) chemotherapy with standard LMB chemotherapy alone. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1915315DOI Listing
June 2020
55.873 Impact Factor

X-linked Agammaglobulinemia Presenting with Multiviral Pneumonia.

Cureus 2020 Apr 29;12(4):e7884. Epub 2020 Apr 29.

Internal Medicine, Smolensk State Medical University, Smolensk, RUS.

X-linked agammaglobulinemia (XLA) is a primary humoral immunodeficiency characterized by severe hypogammaglobulinemia and increased risk of infection. The genetic condition results from a mutation in the Bruton tyrosine kinase (BTK) gene located on the X chromosome leading to a near absence of B cells. Patients affected by XLA are most commonly predisposed to frequent and severe bacterial infections. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.7884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255535PMC

Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency.

Immunol Invest 2020 Jun 1:1-7. Epub 2020 Jun 1.

Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Science , Tehran, Iran.

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08820139.2020.1770784DOI Listing
June 2020
1.903 Impact Factor

Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea.

Yonsei Med J 2020 Jun;61(6):542-546

Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea.

Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in , which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein, we investigated clinical manifestations of APDS1 and collected data on the efficacy and safety profile of sirolimus, a mammalian target of rapamycin inhibitor and pathway-specific targeted medicine. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3349/ymj.2020.61.6.542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256007PMC

Rituximab-associated hypogammaglobulinaemia in ANCA-associated vasculitis and connective tissue diseases: a longitudinal observational study.

Clin Exp Rheumatol 2020 Mar-Apr;38 Suppl 124(2):188-194. Epub 2020 May 22.

Rheumatology Unit, Department of Medicine DIMED, University of Padova, Italy.

Objectives: The burden of hypogammaglobulinaemia following rituximab (RTX) treatment in rheumatic diseases has not been fully elucidated yet. Our aim was to evaluate the frequency and predictors of hypogammaglobulinaemia in patients affected by ANCA-associated vasculitis (AAV) and connective tissue diseases (CTD).

Methods: We retrospectively reviewed prospectively collected data of patients receiving RTX. Read More

View Article

Download full-text PDF

Source

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

Clin Genet 2020 May 22. Epub 2020 May 22.

Department of Medical Genetics, St. Petersburg State Pediatric Medical University, St. Petersburg, Russia.

Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, additional genetic techniques. Genetic causes of the disease were identified in 69/333 (21%) of subjects, including 11/18 (61%) of children with syndrome-associated IEIs, 45/202 (22%) of nonsyndromic patients with Jeffrey Modell Foundation (JMF) warning signs, 9/56 (16%) of subjects with periodic fever, 3/30 (10%) of cases of autoimmune cytopenia, 1/21 (5%) of patients with unusually severe infections and 0/6 (0%) of individuals with isolated elevation of IgE level. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13789DOI Listing

Serum IgG Levels and Risk of COPD Hospitalization: A Pooled Meta-Analysis.

Chest 2020 May 18. Epub 2020 May 18.

Centre for Heart Lung Innovation - St. Paul's Hospital & Department of Medicine, University of British Columbia, Vancouver, BC, Canada. Electronic address:

Background: Hypogammaglobulinemia (serum immunoglobulin G (IgG) levels < 7.0 g/L) has been associated with increased risk of COPD exacerbations but has not yet been shown to predict hospitalizations.

Research Question: To determine the relationship between hypogammaglobulinemia and the risk of hospitalization in patients with COPD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.chest.2020.04.058DOI Listing

Adherence to guidelines across different specialties to prevent infections in patients undergoing immunosuppressive therapies.

BMC Infect Dis 2020 May 20;20(1):359. Epub 2020 May 20.

Department of Haematology, James Cook University Hospital, Middlesbrough, UK.

Background: Substantial numbers of patients are now receiving either immunosuppressive therapies or chemotherapy. There are significant risks in such patients of developing opportunistic infections or re-activation of latent infections, with higher associated morbidity and mortality. The aim of this quality improvement project was to determine how effective 5 different specialties were in assessing and mitigating risks of developing opportunistic infections or re-activation of latent infections in patients undergoing immunosuppressive therapies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12879-020-05082-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238578PMC

Infectious Complications Following CD19 Chimeric Antigen Receptor T-cell Therapy for Children, Adolescents, and Young Adults.

Open Forum Infect Dis 2020 May 9;7(5):ofaa121. Epub 2020 Apr 9.

Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.

Background: Infectious complications of chimeric antigen receptor (CAR) T-cell immunotherapy in children and young adults have not been well described.

Methods: Medical records of patients ≤26 years old receiving CD19 CAR T-cell infusion (CTI) at a single institution between 2014 and 2017 were reviewed. The number of infections per 100 days-at-risk (infection density) in the 90 days preceding and 0-28 and 29-90 days after CTI was calculated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ofid/ofaa121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221263PMC

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Clin Genet 2020 May 15. Epub 2020 May 15.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCSS, Rome, Italy.

UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X-linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty affected subjects have been reported thus far, with 31 cases having intragenic UBE2A variants. Here, we report on additional eight affected subjects from seven unrelated families who were found to be hemizygous for previously unreported UBE2A missense variants (p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13775DOI Listing

Evaluation of the frequency and diagnostic delay of primary immunodeficiency disorders among suspected patients based on the 10 warning sign criteria: A cross-sectional study in Iran.

Allergol Immunopathol (Madr) 2020 May 11. Epub 2020 May 11.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Educationan and Research Netwrork (USERN), Tehran, Iran. Electronic address:

Introduction: The prevalence of undiagnosed primary immunodeficiency diseases is remarkably high and contributes to increasing the rate of morbidity and mortality among this group of patients.

Objective: To examine the 10 warning sign scoring system in patients suspected of primary immune deficiency and also estimate the diagnostic delay in patients with proven disease.

Methods: This descriptive cross-sectional study was carried out during the years 2015-2016 in Ali Asghar (AS) Clinic and Hospital. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.aller.2020.03.005DOI Listing

Btk SH2-kinase interface is critical for allosteric kinase activation and its targeting inhibits B-cell neoplasms.

Nat Commun 2020 May 8;11(1):2319. Epub 2020 May 8.

Swiss Institute for Experimental Cancer Research (ISREC), School of Life Sciences, École polytechnique fédérale de Lausanne (EPFL, 1015, Lausanne, Switzerland.

Bruton's tyrosine kinase (Btk) is critical for B-cell maturation and activation. Btk loss-of-function mutations cause human X-linked agammaglobulinemia (XLA). In contrast, Btk signaling sustains growth of several B-cell neoplasms which may be treated with tyrosine kinase inhibitors (TKIs). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-020-16128-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210950PMC

Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Endocr Metab Immune Disord Drug Targets 2020 May 8. Epub 2020 May 8.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran. Iran.

Agammaglobulinemia is a type of primary antibody deficiencies, characterized by severe reduction in serum level of all types of immunoglobulins level and absence of B cells in the peripheral blood. X-linked and various autosomal recessive/dominant mutations have been identified underlying the pathogenesis of this disorder. Affected patients present a broad range of clinical manifestations, including respiratory infections, gastrointestinal complications, Enterovirus infections, autoimmunity, and malignancies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1871530320666200508114349DOI Listing

Effect of the CXCR4 antagonist plerixafor on endogenous neutrophil dynamics in the bone marrow, lung and spleen.

J Leukoc Biol 2020 Jun 6;107(6):1175-1185. Epub 2020 May 6.

Department of Medicine, National Heart and Lung Institute (NHLI), Imperial College, London, UK.

Treatment with the CXCR4 antagonist, plerixafor (AMD3100), has been proposed for clinical use in patients with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome and in pulmonary fibrosis. However, there is controversy with respect to the impact of plerixafor on neutrophil dynamics in the lung, which may affect its safety profile. In this study, we investigated the kinetics of endogenous neutrophils by direct imaging, using confocal intravital microscopy in mouse bone marrow, spleen, and lungs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/JLB.1MA0420-571RRDOI Listing
June 2020
4.289 Impact Factor

Primary immunodeficiency disorders in children with Non-Cystic Fibrosis Bronchiectasis.

Eur Ann Allergy Clin Immunol 2020 May 6. Epub 2020 May 6.

Hacettepe University Medical School, Department of Pediatric Immunology, Ankara, Turkey.

Summary: Primary Immunodeficiency diseases(PID) are common in patients with non-cystic fibrosis bronchiectasis(NCFB). Our objective was to determine ratio/types of PID in NCFB. Seventy NCFB patients followed up in a two-year period were enrolled. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23822/EurAnnACI.1764-1489.151DOI Listing

Hypogammaglobulinemia and Risk of Exacerbation and Mortality in Patients with COPD.

Int J Chron Obstruct Pulmon Dis 2020 16;15:799-807. Epub 2020 Apr 16.

Division of Emergencies and Critical Care, Department of Research and Development, Oslo University Hospital, Ullevål, Oslo, Norway.

Introduction: Chronic obstructive pulmonary disease (COPD) may, in some patients, be characterized by recurring acute exacerbations. Often these exacerbations are associated with airway infections. As immunoglobulins (Ig) are important parts of the immune defence against airway infections, the aim of this study was to relate the levels of circulating immunoglobulins to clinical features in unselected patients with COPD included in a Norwegian multicenter study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/COPD.S236656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7173948PMC

Imatinib-Induced Hypogammaglobulinemia in Children and Adolescents with Chronic Myeloid Leukemia.

Pediatr Hematol Oncol 2020 May 4:1-6. Epub 2020 May 4.

Pediatric Hematology-Oncology Unit, Dept. of Pediatrics, Advanced Pediatrics Center, Chandigarh, India.

Imatinib-induced tyrosine kinase inhibition extends beyond the BCR-ABL mutation, resulting in adverse effects. We evaluated hypogammaglobulinemia as a potential 'off-target' action of imatinib in children with CML. A cross-sectional, observational study was performed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08880018.2020.1759739DOI Listing
May 2020
0.963 Impact Factor

Tocilizumab may induce secondary hypogammaglobulinaemia. A retrospective case series of 42 patients.

Joint Bone Spine 2020 Apr 29. Epub 2020 Apr 29.

Department of Rheumatology, Consorci Parc de Salut MAR/Hospital del Mar., Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbspin.2020.03.018DOI Listing

Rituximab, MS, and pregnancy.

Neurol Neuroimmunol Neuroinflamm 2020 Jul 1;7(4). Epub 2020 May 1.

From the Department of Research & Evaluation (J.B.S.), Kaiser Permanente Southern California; Department of Neurology (K.H.), St. Josef Hospital, Bochum, Germany; Department of Clinical Neuroscience (K.F., F.P.), Karolinska Institute; Center for Neurology (K.F.), Academic Specialist Center, Stockholm, Sweden; Department of Obstetrics & Gynecology - Maternal Fetal Medicine (D.J.L.), Stanford University School of Medicine, Stanford, CA; Department of Neurology (F.P.), Karolinska University Hospital, Stockholm, Sweden; and Department of Neurology (A.L.-G.), Los Angeles Medical Center, Southern California Permanente Medical Group, Los Angeles, CA.

Objective: To describe the safety and efficacy of rituximab (RTX) in MS and pregnancy, we conducted a retrospective cohort study of 74 pregnancies among 55 women treated with RTX for MS and their offspring.

Methods: We used prospectively collected information from the electronic health record at Kaiser Permanente Southern California between 2012 and 2019 of mother and baby to identify treatment history, pregnancy outcomes, and relapses.

Results: Last RTX exposure before conception occurred between 1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXI.0000000000000734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217660PMC

Chronic high-level multidrug-resistant Campylobacter coli enterocolitis in an agammaglobulinemia patient: Oral gentamicin efficacy.

Authors:
M Dan M Parizade

Med Mal Infect 2020 Apr 27. Epub 2020 Apr 27.

Maccabi Health Services, Bacteriology Unit, National Laboratory, Rehovot, Israel.

Background: Campylobacter is the most common cause of infectious diarrhea in agammaglobulinemia patients. These infections can be severe, prolonged, and recurrent in such patients.

Patient And Methods: We report a 29-year-old male patient with X-linked agammaglobulinemia with Campylobacter coli enterocolitis that persisted for nine months despite multiple 10- to 14-day courses of oral ciprofloxacin and azithromycin. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.medmal.2020.04.013DOI Listing

Persistent hypogammaglobulinemia due to immunoglobulin class switch impairment by peri-transplant rituximab therapy.

Int J Hematol 2020 Apr 27. Epub 2020 Apr 27.

Department of Hematology and Oncology, Okayama University Hospital, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan.

Post-transplant lymphoproliferative disorder (PTLD) is one of the most serious complications of allogeneic hematopoietic stem cell transplantation (HSCT). Rituximab is effective for PTLD; however, rituximab can produce adverse effects, including hypogammaglobulinemia. Here, we present the case of an 18-year-old female with refractory cytopenia of childhood who developed persistent selective hypogammaglobulinemia with low immunoglobulin G (IgG) 2 and IgG4 levels and monoclonal protein after rituximab therapy against probable PTLD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12185-020-02886-xDOI Listing

Pseudomonas aeruginosa sepsis presenting as oral ecthyma gangrenosum in identical twins with Bruton tyrosine kinase gene mutation: Two case reports and review of the literature.

J Microbiol Immunol Infect 2020 Apr 17. Epub 2020 Apr 17.

Department of Pediatrics, Shuang Ho Hospital, Taipei Medical University, Taipei, Taiwan; Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address:

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease. We reported two 7-month-old identical male twins with Pseudomonas aeruginosa sepsis who initially manifested as oral ecthyma gangrenosum and were finally diagnosed to have XLA. In both cases, we confirmed the c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmii.2020.04.009DOI Listing

A possible role for B cells in COVID-19? Lesson from patients with agammaglobulinemia.

J Allergy Clin Immunol 2020 Apr 22. Epub 2020 Apr 22.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; ASST-Spedali Civili di Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2020.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175894PMC

Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover.

Pediatr Allergy Immunol 2020 Apr 22. Epub 2020 Apr 22.

Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

Background: The recent SARS-CoV-2 pandemic, which has recently affected Italy since February 21, constitutes a threat to normal subjects, as the coronavirus disease-19 (COVID-19) can manifest with a broad spectrum of clinical phenotypes ranging from asymptomatic cases to pneumonia or even death. There is evidence that older age and several comorbidities can affect the risk to develop severe pneumonia and possibly the need of mechanic ventilation in subjects infected with SARS-CoV-2. Therefore, we evaluated the outcome of SARS-CoV-2 infection in patients with inborn errors of immunity (IEI) such as X-linked agammaglobulinemia (XLA). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pai.13263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264678PMC