2,890 results match your criteria Journal of clinical immunology[Journal]


A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

J Clin Immunol 2019 Feb 5. Epub 2019 Feb 5.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.

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http://dx.doi.org/10.1007/s10875-019-00595-7DOI Listing
February 2019
1 Read
3.184 Impact Factor

EBV-Related Hodgkin Lymphoma in an ICF2 Patient: Is EBV Susceptibility a Hallmark of This ICF Subtype?

J Clin Immunol 2019 Feb 4. Epub 2019 Feb 4.

Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, P.zza Polonia 94, 10126, Turin, Italy.

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http://dx.doi.org/10.1007/s10875-019-00596-6DOI Listing
February 2019

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

J Clin Immunol 2019 Feb 4. Epub 2019 Feb 4.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, 4th Floor, Building no.3, Children's Medical Center, Gharib St, Keshavarz Blvd, 14185-863, Tehran, IR, 14194, Iran.

Purpose: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency, triggered by non-tuberculous mycobacteria or Bacillus Calmette-Guérin (BCG) vaccines and characterized by severe diseases. All known genetic etiologies are inborn errors of IFN-γ-mediated immunity. Here, we report the molecular, cellular, and clinical features of patients from 15 Iranian families with disseminated disease without vaccination (2 patients) or following live BCG vaccination (14 patients). Read More

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http://link.springer.com/10.1007/s10875-019-0593-4
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http://dx.doi.org/10.1007/s10875-019-0593-4DOI Listing
February 2019
3 Reads

TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia.

J Clin Immunol 2019 Jan 26;39(1):118-125. Epub 2019 Jan 26.

CHUM Research Center, Université de Montréal, Montreal, Canada.

Purpose: Cryofibrinogenemia is a rare cryopathy presenting as acrocyanosis following exposure to cold. Familial presentation has been described but the underlying molecular cause remained undetermined.

Methods: Forty (40) members from a large family with an initial diagnosis of familial cryofibrinogenemia were interviewed and examined to determine affected status and collect DNA. Read More

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http://dx.doi.org/10.1007/s10875-018-0584-xDOI Listing
January 2019

Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma.

J Clin Immunol 2019 Jan 24;39(1):112-117. Epub 2019 Jan 24.

Division of Allergy Immunology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.

Purpose: Nitazoxanide was recently reported as having in vitro effectiveness against the rubella virus. Immunodeficiency-related vaccine-derived rubella occurs in some patients who have an inherited immunodeficiency and who received the MMR vaccine. This study investigated the in vivo effectiveness of nitazoxanide therapy. Read More

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http://dx.doi.org/10.1007/s10875-019-0589-0DOI Listing
January 2019
2 Reads

Neurological Involvement in Childhood Evans Syndrome.

J Clin Immunol 2019 Jan 22. Epub 2019 Jan 22.

Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE), University Hospital of Bordeaux, Bordeaux, France.

Purpose: Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are associated in the definition of Evans syndrome (ES). The occurrence of neurological involvement in this population is poorly described and suggests an underlying primary immunodeficiency (PID). We aimed to describe the clinical manifestations, evolution, and PID profiles of these patients. Read More

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http://link.springer.com/10.1007/s10875-019-0594-3
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http://dx.doi.org/10.1007/s10875-019-0594-3DOI Listing
January 2019
4 Reads

Health-Related Quality of Life in Patients with CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study.

J Clin Immunol 2019 Jan 15. Epub 2019 Jan 15.

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

Objective: We assessed the health-related quality of life (HRQoL) in CVID adults receiving different schedules of immunoglobulin replacement therapy (IgRT) by intravenous (IVIG), subcutaneous (SCIG), and facilitated (fSCIG) preparations. For these patients, IgRT schedule was chosen after a period focused on identifying the most suitable individual option.

Methods: Three hundred twenty-seven participants were enrolled in a prospective, observational, 18-month study. Read More

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http://dx.doi.org/10.1007/s10875-019-0592-5DOI Listing
January 2019
2 Reads
3.184 Impact Factor

Childhood Hodgkin Lymphoma: Think DADA2.

J Clin Immunol 2019 Jan 14;39(1):26-29. Epub 2019 Jan 14.

Department of Pediatrics, Department of Microbiology and Immunology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10875-019-0590-7DOI Listing
January 2019

Mosaicism of an ELANE Mutation in an Asymptomatic Mother.

J Clin Immunol 2019 Jan 12;39(1):106-111. Epub 2019 Jan 12.

Department of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.

Purpose: We report normal neutrophil count in a mother, who carries the same ELANE mutation as her daughter with severe congenital neutropenia. We hypothesized that the mother possessed wild- and mutant-type clones and the wild-type clones could generate neutrophils, whereas the mutant clones could not.

Methods: We confirmed mutant variant ratio by sequence signals and measured the frequency of the mutant allele by subcloning in various cell types. Read More

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http://dx.doi.org/10.1007/s10875-018-0580-1DOI Listing
January 2019
1 Read

Successful Treatment with SCIG of a Child with Refractory Chronic ITP.

J Clin Immunol 2019 Jan 10;39(1):19-22. Epub 2019 Jan 10.

Research Unit for Pediatric Hematology and Immunology, Medical University Graz, Auenbruggerpl. 34/2, 8036, Graz, Austria.

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http://dx.doi.org/10.1007/s10875-018-0583-yDOI Listing
January 2019

Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes.

J Clin Immunol 2019 Jan 10;39(1):23-25. Epub 2019 Jan 10.

Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

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http://dx.doi.org/10.1007/s10875-019-0591-6DOI Listing
January 2019
1 Read

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

J Clin Immunol 2019 Jan 8;39(1):99-105. Epub 2019 Jan 8.

Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.

DNA ligase IV (LIG4) syndrome is a rare autosomal recessive disorder, manifesting with variable immune deficiency, growth failure, predisposition to malignancy, and cellular sensitivity to ionizing radiation. The facial features are subtle and variable, as well. Herein, we described an 18-year-old boy, the first child of consanguineous parents who presented with Behçet's disease (BD)-like phenotype, developmental delay, and dysembryoplastic neuroepithelial tumor (DNET). Read More

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http://dx.doi.org/10.1007/s10875-018-0587-7DOI Listing
January 2019
9 Reads

Two Prenatal Cases of Hyper-IgE Syndrome.

J Clin Immunol 2019 Jan 7;39(1):15-18. Epub 2019 Jan 7.

Comprehensive Reproductive Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

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http://dx.doi.org/10.1007/s10875-018-0588-6DOI Listing
January 2019

A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.

J Clin Immunol 2019 Jan 5;39(1):11-14. Epub 2019 Jan 5.

Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

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http://link.springer.com/10.1007/s10875-018-0586-8
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http://dx.doi.org/10.1007/s10875-018-0586-8DOI Listing
January 2019
3 Reads

Differing Performance of the Warning Signs for Immunodeficiency in the Diagnosis of Pediatric Versus Adult Patients in a Two-Center Tertiary Referral Population.

J Clin Immunol 2019 Jan 4;39(1):90-98. Epub 2019 Jan 4.

Department of Allergy and Clinical Immunology, Cleveland Clinic, Cleveland, OH, USA.

Purpose: Primary immunodeficiency (PID) represents disorders with a spectrum of clinical presentations. The medical community seeks clinical features to prompt evaluation for immunodeficiency given improved prognosis with early identification. We hoped to identify clinical characteristics that would improve the diagnostic accuracy of the widely disseminated Jeffrey Modell Foundation warning signs for immunodeficiency. Read More

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http://dx.doi.org/10.1007/s10875-018-0582-zDOI Listing
January 2019
1 Read

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

J Clin Immunol 2019 Jan 3;39(1):81-89. Epub 2019 Jan 3.

Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA, USA.

The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive granulomas had DNA repair disorders. To support this line of inquiry, we provide additional descriptive data on seven previously reported patients with Nijmegen breakage syndrome (NBS) (n = 3) and ataxia telangiectasia (AT) (n = 4) as well as eight previously unreported patients with iVDRV-induced cutaneous granulomas and DNA repair disorders including NBS (n = 1), AT (n = 5), DNA ligase 4 deficiency (n = 1), and Artemis deficiency (n = 1). Read More

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http://link.springer.com/10.1007/s10875-018-0581-0
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http://dx.doi.org/10.1007/s10875-018-0581-0DOI Listing
January 2019
6 Reads

Monoclonal Gammopathy of Unclear Significance in a Child with Wiskott-Aldrich Syndrome: a Rare Occurrence.

J Clin Immunol 2019 Jan 3;39(1):7-10. Epub 2019 Jan 3.

Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

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http://dx.doi.org/10.1007/s10875-018-0585-9DOI Listing
January 2019
1 Read
3.184 Impact Factor

DDX58 and Classic Singleton-Merten Syndrome.

J Clin Immunol 2019 Jan 20;39(1):75-80. Epub 2018 Dec 20.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.

Purpose: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome. Read More

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http://dx.doi.org/10.1007/s10875-018-0572-1DOI Listing
January 2019

Lymphocyte Apoptosis and FAS Expression in Patients with 22q11.2 Deletion Syndrome.

J Clin Immunol 2019 Jan 19;39(1):65-74. Epub 2018 Dec 19.

Center for Rare Diseases, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Purpose: Immunodeficiency is one of the key features of 22q11.2 deletion syndrome (del), and it is seen in approximately 75% of the patients. The degree of immunodeficiency varies widely, from no circulating T cells to normal T cell counts. Read More

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http://dx.doi.org/10.1007/s10875-018-0579-7DOI Listing
January 2019

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.

J Clin Immunol 2019 Jan 14;39(1):55-64. Epub 2018 Dec 14.

Department of Haematology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, France et Université Paris Descartes, 149 rue de Sèvres, 75015, Paris, France.

Purpose: Progressive multifocal leukoencephalopathy (PML) is a rare but severe demyelinating disease caused by the polyomavirus JC (JCV) in immunocompromised patients. We report a series of patients with primary immune deficiencies (PIDs) who developed PML.

Methods: Retrospective observational study including PID patients with PML. Read More

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http://dx.doi.org/10.1007/s10875-018-0578-8DOI Listing
January 2019
1 Read

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.

J Clin Immunol 2019 Jan 13;39(1):45-54. Epub 2018 Dec 13.

Paediatric Immunology Unit, Department of Paediatric Pulmonology, Allergology and Neonatology, Hanover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.

Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. Read More

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http://link.springer.com/10.1007/s10875-018-0577-9
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http://dx.doi.org/10.1007/s10875-018-0577-9DOI Listing
January 2019
8 Reads

Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.

J Clin Immunol 2019 Jan 13;39(1):37-44. Epub 2018 Dec 13.

Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.

Purpose: Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID). So far, there is very limited experience with hematopoietic stem cell transplantation (HSCT) as a therapeutic modality in this disorder. Here, we describe two patients with heterozygous STAT1 GOF mutations mimicking CID who were treated with HSCT. Read More

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http://link.springer.com/10.1007/s10875-018-0575-y
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http://dx.doi.org/10.1007/s10875-018-0575-yDOI Listing
January 2019
2 Reads

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.

J Clin Immunol 2018 Nov 3;38(8):847-853. Epub 2018 Dec 3.

Allergy and Immunology Section, Children's Specialized Hospital, King Fahad Medical City, Makkah Almukaramah Road, As Sulimaniyah 6481, Riyadh, 12231, Saudi Arabia.

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http://link.springer.com/10.1007/s10875-018-0569-9
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http://dx.doi.org/10.1007/s10875-018-0569-9DOI Listing
November 2018
9 Reads

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

J Clin Immunol 2018 Nov 29;38(8):854-863. Epub 2018 Nov 29.

Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

Purpose: We aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients with APDS1.

Methods: Fifteen Chinese patients with APDS1 from 14 unrelated families were enrolled in this study. Read More

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http://dx.doi.org/10.1007/s10875-018-0568-xDOI Listing
November 2018
3 Reads

William T. Shearer MD, PhD in Memoriam.

J Clin Immunol 2018 Nov;38(8):833-835

Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York Presbyterian Morgan Stanley Children's Hospital, New York, NY, 10032, USA.

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http://link.springer.com/10.1007/s10875-018-0571-2
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http://dx.doi.org/10.1007/s10875-018-0571-2DOI Listing
November 2018
1 Read

MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation.

J Clin Immunol 2019 Jan 26;39(1):4-6. Epub 2018 Nov 26.

Serviço de Transplantação de Medula Óssea, Instituto Português de Oncologia, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s10875-018-0576-xDOI Listing
January 2019
2 Reads

Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.

J Clin Immunol 2018 Nov 24;38(8):917-926. Epub 2018 Nov 24.

Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil.

The results of hematopoietic stem cell transplant (HSCT) for primary immunodeficiency diseases (PID) have been improving over time. Unfortunately, developing countries do not experience the same results. This first report of Brazilian experience of HSCT for PID describes the development and results in the field. Read More

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http://dx.doi.org/10.1007/s10875-018-0564-1DOI Listing
November 2018
11 Reads

Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered.

J Clin Immunol 2019 Jan 23;39(1):1-3. Epub 2018 Nov 23.

Experimental Transplantation and Immunology Branch, National Cancer Institute (NCI), National Institutes of Health (NIH), 10 Center Drive, Bethesda, MD, 20892, USA.

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http://link.springer.com/10.1007/s10875-018-0573-0
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http://dx.doi.org/10.1007/s10875-018-0573-0DOI Listing
January 2019
5 Reads

Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.

J Clin Immunol 2018 Nov 23;38(8):898-916. Epub 2018 Nov 23.

National Institute of Immunohaematology-ICMR, 13th floor, KEM Hospital Campus, Mumbai, Parel, 400012, India.

Background: Chronic granulomatous disease (CGD) is characterized by mutation in any one of the five genes coding NADPH oxidase components that leads to functional abnormality preventing the killing of phagocytosed microbes by affecting the progression of a respiratory burst. CGD patients have an increased susceptibility to infections by opportunistic and pathogenic organisms. Though initial diagnosis of CGD using a nitroblue tetrazolium (NBT) test or dihydrorhodamine (DHR) test is relatively easy, molecular diagnosis is challenging due to involvement of multiple genes, presence of pseudogenes, large deletions, and GC-rich regions, among other factors. Read More

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http://dx.doi.org/10.1007/s10875-018-0567-yDOI Listing
November 2018
10 Reads

Autoimmunity and Inflammation in CVID: a Possible Crosstalk between Immune Activation, Gut Microbiota, and Epigenetic Modifications.

J Clin Immunol 2019 Jan 21;39(1):30-36. Epub 2018 Nov 21.

Research Institute of Internal Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, Nydalen, P.O. Box 4950, 0424, Oslo, Norway.

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency among adults and is characterized by a B cell dysfunction and increased risk of respiratory tract infections with encapsulated bacteria. However, a large proportion of patients also has inflammatory and autoimmune complications. It may seem like a paradox that immunodeficiency and inflammation/autoimmunity coexist within the same individuals. Read More

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http://dx.doi.org/10.1007/s10875-018-0574-zDOI Listing
January 2019
1 Read

Treatment Satisfaction with Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Immunodeficiency: a Pooled Analysis of Six Hizentra® Studies.

J Clin Immunol 2018 Nov 21;38(8):886-897. Epub 2018 Nov 21.

CSL Behring LLC, King of Prussia, PA, USA.

Purpose: Primary immunodeficiency diseases (PIDDs) are a heterogenous group of disorders characterized by intrinsic impairment in the immune system. Most patients with PIDD require life-long immunoglobulin G replacement therapy, which has been shown to reduce the rate of infections and, related hospitalizations and reduce health-related quality of life (HRQOL). Here, treatment satisfaction and HRQOL in patients with PIDD was evaluated upon switching from intravenous (IVIG) or subcutaneous immunoglobulins (SCIGs) to 20% SCIG (Hizentra®), and during long-term steady-state Hizentra® treatment. Read More

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http://dx.doi.org/10.1007/s10875-018-0562-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292975PMC
November 2018
5 Reads

JAK 1/2 Blockade in MDA5 Gain-of-Function.

J Clin Immunol 2018 Nov 15;38(8):844-846. Epub 2018 Nov 15.

Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.

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http://link.springer.com/10.1007/s10875-018-0563-2
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http://dx.doi.org/10.1007/s10875-018-0563-2DOI Listing
November 2018
8 Reads

Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

J Clin Immunol 2018 Nov;38(8):938-939

Laboratory of inborn errors of immunity, Department of Immunology and Microbiology, KU Leuven, Leuven, Belgium.

The original version of this article unfortunately did not display the appropriate captions in the figure. The correct version is displayed below. Read More

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http://link.springer.com/10.1007/s10875-018-0570-3
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http://dx.doi.org/10.1007/s10875-018-0570-3DOI Listing
November 2018
10 Reads

Home-Based Treatment with Immunoglobulins: an Evaluation from the Perspective of Patients and Healthcare Professionals.

J Clin Immunol 2018 Nov 12;38(8):876-885. Epub 2018 Nov 12.

NIVEL, Netherlands Institute for Health Services Research, Otterstraat 118-124, 3513 CR, Utrecht, The Netherlands.

Purpose: This study aims to evaluate home-based treatment with immunoglobulin (IgG) by assessing and comparing the experiences and perceived value of patients and healthcare professionals, and potential differences in experiences between subcutaneous (SCIg) and intravenous (IVIg) modes of administration. As choices on the location and type of treatment are determined in a shared decision-making process, we evaluated the home-based treatment from the perspectives of both patients and professionals.

Methods: A questionnaire study was conducted among 205 patients, 44 informal caregivers, 43 hospital professionals, and 21 nurses of the Sanquin Home Service (SHS) that provides home treatment with immunoglobulins in the Netherlands. Read More

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http://link.springer.com/10.1007/s10875-018-0566-z
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http://dx.doi.org/10.1007/s10875-018-0566-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292972PMC
November 2018
9 Reads

Long-Term Efficacy and Safety of Hizentra® in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials.

J Clin Immunol 2018 Nov 10;38(8):864-875. Epub 2018 Nov 10.

Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Many patients with primary immunodeficiency (PID) require immunoglobulin G (IgG) replacement therapy, delivered as intravenous IgG (IVIG) or subcutaneous IgG (SCIG). We aim to identify trends in efficacy and safety that would not be evident in individual studies of small patient numbers. Seven open-label, Phase 3, prospective, multicenter studies of the efficacy and safety of Hizentra® (a SCIG), conducted in Japan, Europe, and the US were summarized. Read More

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http://link.springer.com/10.1007/s10875-018-0560-5
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http://dx.doi.org/10.1007/s10875-018-0560-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292970PMC
November 2018
11 Reads

Warts and DADA2: a Mere Coincidence?

J Clin Immunol 2018 Nov 1;38(8):836-843. Epub 2018 Nov 1.

Department of Pediatrics, Laboratory for Inborn Errors of Immunity, Department of Microbiology and Immunology, University Hospitals Leuven, KU Leuven, Herestraat 49 - bus 7003, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10875-018-0565-0DOI Listing
November 2018
3 Reads

Clinical and Immunological Characterization of ICF Syndrome in Japan.

J Clin Immunol 2018 Nov 23;38(8):927-937. Epub 2018 Oct 23.

Department of Pediatrics, National Defense Medical College, 3-2, Namiki, Tokorozawa, Saitama, 359-0042, Japan.

Objective: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive primary immunodeficiency. Hypogammaglobulinemia is a major manifestation of ICF syndrome, but immunoglobulin replacement therapy does not seem to be effective for some ICF patients. Therefore, we aimed to reassess the immunological characteristics of this syndrome. Read More

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http://link.springer.com/10.1007/s10875-018-0559-y
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http://dx.doi.org/10.1007/s10875-018-0559-yDOI Listing
November 2018
14 Reads

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

J Clin Immunol 2018 Oct 13;38(7):753-756. Epub 2018 Oct 13.

Department of Pediatrics, Baylor College of Medicine, 1102 Bates, Suite 330, Houston, TX, 77030, USA.

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http://link.springer.com/10.1007/s10875-018-0554-3
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http://dx.doi.org/10.1007/s10875-018-0554-3DOI Listing
October 2018
9 Reads

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

J Clin Immunol 2018 Oct 11;38(7):748-752. Epub 2018 Oct 11.

Department of Immunology and Microbiology, Laboratory of inborn errors of immunity, KU Leuven, Leuven, Belgium.

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http://link.springer.com/10.1007/s10875-018-0558-z
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http://dx.doi.org/10.1007/s10875-018-0558-zDOI Listing
October 2018
15 Reads

Correction to: Allogeneic Hematopoietic Cell Transplantation in Patients with Primary Immunodeficiencies in Korea: Eleven-Year Experience in a Single Center.

J Clin Immunol 2018 Oct;38(7):767

Division of Hematology and Oncology, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

The original version of this article unfortunately contained a mistake in the 7th author's given name. The correct version is presented above. Read More

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http://link.springer.com/10.1007/s10875-018-0561-4
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http://dx.doi.org/10.1007/s10875-018-0561-4DOI Listing
October 2018
3 Reads

Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.

J Clin Immunol 2018 Oct 9;38(7):745-747. Epub 2018 Oct 9.

Immunology and Rheumatology Department, Hospital de Pediatría "Dr. Juan P. Garrahan", Combate de los Pozos, 1881, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s10875-018-0557-0DOI Listing
October 2018
1 Read

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

J Clin Immunol 2018 Oct 9;38(7):816-832. Epub 2018 Oct 9.

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

Background: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.

Method: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing. Read More

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http://link.springer.com/10.1007/s10875-018-0556-1
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http://dx.doi.org/10.1007/s10875-018-0556-1DOI Listing
October 2018
105 Reads
3.184 Impact Factor

Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.

J Clin Immunol 2018 Oct 4;38(7):742-744. Epub 2018 Oct 4.

Department of Pediatrics & Child Health, University of Manitoba, 840 Sherbrook Street, Winnipeg, Manitoba, R3A 1S1, Canada.

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http://link.springer.com/10.1007/s10875-018-0555-2
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http://dx.doi.org/10.1007/s10875-018-0555-2DOI Listing
October 2018
1 Read

Pseudo-Sarcoidosis Revealing MonoMAC Syndrome.

J Clin Immunol 2018 Oct 2;38(7):739-741. Epub 2018 Oct 2.

Clinical Immunology Department, Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP) Université Paris Diderot, Paris, France.

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http://dx.doi.org/10.1007/s10875-018-0551-6DOI Listing
October 2018
13 Reads

Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy.

J Clin Immunol 2018 Oct 2;38(7):810-815. Epub 2018 Oct 2.

Department of Clinical Immunology and Allergology, St. Anne's University Hospital in Brno, Brno, Czech Republic.

Purpose: Hereditary angioedema (HAE) is a rare disease caused by a C1 inhibitor (C1-INH) deficit. Clinically, HAE is manifested by repeated episodes of localized subcutaneous or submucosal oedema attacks. Managing HAE patients in pregnancy is challenging, since there are only limited data on the safety and efficacy of various therapeutic approaches. Read More

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http://dx.doi.org/10.1007/s10875-018-0553-4DOI Listing
October 2018
2 Reads

High Rates of Community and Hospital Acquired Infections in Patients with Cellular Immunodeficiencies.

J Clin Immunol 2018 Oct 29;38(7):804-809. Epub 2018 Sep 29.

Division of Infectious Diseases, Children's National Health System, Washington, DC, 20010, USA.

Purpose: Patients with primary immunodeficiency diseases (PID) are perceived to be at high risk for acquiring as well as developing complications from infections. There is little data describing the infection type and frequency these patients may acquire in the community or during hospital admissions. Data is critically needed in order to inform best practices on how to protect these vulnerable patients. Read More

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http://dx.doi.org/10.1007/s10875-018-0552-5DOI Listing
October 2018
14 Reads

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.

J Clin Immunol 2018 Oct 28;38(7):794-803. Epub 2018 Sep 28.

Grupo de Inmunodeficiencias Primarias, Universidad de Antioquia UdeA, Calle 70 No. 52-21, Medellín, Colombia.

Purpose: CARD9 deficiency is an inborn error of immunity that predisposes otherwise healthy humans to mucocutaneous and invasive fungal infections, mostly caused by Candida, but also by dermatophytes, Aspergillus, and other fungi. Phaeohyphomycosis are an emerging group of fungal infections caused by dematiaceous fungi (phaeohyphomycetes) and are being increasingly identified in patients with CARD9 deficiency. The Corynespora genus belongs to phaeohyphomycetes and only one adult patient with CARD9 deficiency has been reported to suffer from invasive disease caused by C. Read More

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http://dx.doi.org/10.1007/s10875-018-0549-0DOI Listing
October 2018
2 Reads

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

J Clin Immunol 2018 Oct 25;38(7):787-793. Epub 2018 Sep 25.

Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Purpose: Inborn errors of IFN-γ-mediated immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD), which is characterized by an increased susceptibility to severe and recurrent infections caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccines and environmental, nontuberculous mycobacteria (NTM).

Methods: In this study, we investigated four patients from four unrelated consanguineous families from Isfahan, Iran, with disseminated BCG disease. We evaluated the patients' whole blood cell response to IL-12 and IFN-γ, IL-12Rβ1 expression on T cell blasts, and sequenced candidate genes. Read More

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http://dx.doi.org/10.1007/s10875-018-0548-1DOI Listing
October 2018
20 Reads

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).

J Clin Immunol 2018 Oct 24;38(7):778-786. Epub 2018 Sep 24.

Service d'oncologie pédiatrique, CHU Nantes, Nantes, France.

Severe combined immunodeficiency (SCID) is characterized by a major T cell deficiency. Infants with SCID are asymptomatic at birth but die from infections in the first year of life if not treated. Survival rates are better for early treatment. Read More

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http://dx.doi.org/10.1007/s10875-018-0550-7DOI Listing
October 2018
3 Reads