2,919 results match your criteria Journal of clinical immunology[Journal]


Successful Lung Transplantation in a Patient with Chronic Granulomatous Disease.

J Clin Immunol 2019 Apr 23. Epub 2019 Apr 23.

Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00623-6DOI Listing

Granule Cell Neuronopathy in a Patient with Common Variable Immunodeficiency.

J Clin Immunol 2019 Apr 16. Epub 2019 Apr 16.

School of Medicine, University of Western Australia, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00624-5DOI Listing
April 2019
1 Read

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.

J Clin Immunol 2019 Apr 16. Epub 2019 Apr 16.

Department of Clinical Immunology and Allergy, St. James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-00625-4
Publisher Site
http://dx.doi.org/10.1007/s10875-019-00625-4DOI Listing
April 2019
1 Read

Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency.

J Clin Immunol 2019 Apr 13. Epub 2019 Apr 13.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-00626-3
Publisher Site
http://dx.doi.org/10.1007/s10875-019-00626-3DOI Listing
April 2019
1 Read

Successful Treatment of Sinusitis with Topical Human Milk in a Lymphoma Patient Using Rituximab.

J Clin Immunol 2019 Apr 6. Epub 2019 Apr 6.

Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00620-9DOI Listing
April 2019
3 Reads

Interleukin-36 Receptor Antagonist Deficiency (DITRA) with a Novel IL36RN Homozygous Mutation c.200G > T (P.Cys67Phe) in a Young Colombian Woman.

J Clin Immunol 2019 Apr 5. Epub 2019 Apr 5.

Microbiology Department, Faculty of Health, Universidad del Valle, Calle 4b #36-00 Building 120, Office 304, Cali, Colombia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00622-7DOI Listing
April 2019
1 Read

Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation.

J Clin Immunol 2019 Apr 5. Epub 2019 Apr 5.

Department of Pediatrics and Communicable Diseases, Division of Pediatric Hematology/Oncology, University of Michigan, 1500 E. Medical Center Drive, D4202 Medical Professional Building, Ann Arbor, MI, 48109, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00621-8DOI Listing

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.

J Clin Immunol 2019 Apr 4. Epub 2019 Apr 4.

Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00618-3DOI Listing
April 2019
1 Read
3.184 Impact Factor

Altered Peripheral Blood Leucocyte Phenotype and Responses in Healthy Individuals with Homozygous Deletion of FHR1 and FHR3 Genes.

J Clin Immunol 2019 Apr 3. Epub 2019 Apr 3.

Regional Centre for Biotechnology, Faridabad, India.

A homozygous 83-kb deletion encompassing the genes for complement factor-H-related proteins 1 and 3 (FHR 1, FHR3) is known as a risk factor for some immune inflammatory disorders. However, the functional relevance of this FHR1/3 deletion is relatively unexplored. Globally, healthy populations of all ethnic groups tested show an 8-10% prevalence of homozygosity for this deletion polymorphism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00619-2DOI Listing
April 2019
1 Read
3.184 Impact Factor

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.

J Clin Immunol 2019 Mar 29. Epub 2019 Mar 29.

Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, VIC, 3052, Australia.

Common variable immunodeficiency is the most prevalent of the primary immunodeficiency diseases, yet its pathogenesis is largely poorly understood. Of the cases that are monogenic, many arise due to pathogenic variants in NFKB1 and NFKB2. Here, we report enteroviral encephalomyelitis as the cause of a fatal neurodegenerative condition in a patient with a novel heterozygous mutation in NFKB2 (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00602-xDOI Listing
March 2019
2 Reads

Clinical Features and HSCT Outcome for SCID in Turkey.

J Clin Immunol 2019 Mar 28. Epub 2019 Mar 28.

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

Severe combined immunodeficiency (SCID) is the most serious PID, characterized by T cell lymphopenia and lack of antigen-specific T cell and B cell immune responses, inevitably leading to death within the first year of life if hematopoietic stem cell transplantation (HSCT) is not performed.

Purpose And Methods: Since SCID is a common type of PID with an estimated incidence of 1/10.000 in Turkey, a retrospective analysis of HSCT characteristics, survival, immune recovery, and the major clinical features of SCID prior to HSCT is the aim of this multi-transplant center-based analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00610-xDOI Listing
March 2019
1 Read

Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.

J Clin Immunol 2019 Mar 27. Epub 2019 Mar 27.

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

Purpose: We aimed to report the characteristics of leukocyte adhesion deficiency-I (LAD-I) and four novel mutations in the ITGB2 gene in a Chinese cohort.

Methods: Seven patients with LAD-I were reported in our study. Clinical manifestations and immunological phenotypes were reviewed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00617-4DOI Listing
March 2019
1 Read

Different Clonal T-Large Granular Lymphocyte Proliferations in SCID.

J Clin Immunol 2019 Mar 27. Epub 2019 Mar 27.

Division of Hematology/Oncology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, 3901 Beaubien Blvd., Detroit, MI, 48201, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00614-7DOI Listing

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases.

J Clin Immunol 2019 Feb 26;39(2):216-224. Epub 2019 Mar 26.

Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montreal, Quebec, H4A 3J1, Canada.

Purpose: Primary ciliary dyskinesia (PCD) is a rare disorder of the mucociliary clearance leading to recurrent upper and lower respiratory tract infections. PCD is difficult to clinically distinguish from other entities leading to recurrent oto-sino-pulmonary infections, including primary immunodeficiency (PID). Nasal nitric oxide (nNO) is a sensitive and specific diagnostic test for PCD, but it has not been thoroughly examined in PID. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00613-8DOI Listing
February 2019
2 Reads

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

J Clin Immunol 2019 Feb 25;39(2):148-158. Epub 2019 Mar 25.

Immunology, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, NSW, 2010, Australia.

"This porridge is too hot!" she exclaimed. So, she tasted the porridge from the second bowl. "This porridge is too cold," she said. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00612-9DOI Listing
February 2019

Revisiting Fatal Granulomatous Disease of Childhood Through an Autopsy: Still Lethal in the Developing World!

J Clin Immunol 2019 Mar 21. Epub 2019 Mar 21.

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00616-5DOI Listing

Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency.

J Clin Immunol 2019 Feb 21;39(2):207-215. Epub 2019 Mar 21.

Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital, LMU Munich, Lindwurmstrasse 4, 80337, Munich, Germany.

Inborn errors in interleukin 2 receptor, gamma (IL2RG) perturb signaling of the common gamma chain family cytokines and cause severe combined immunodeficiency (SCID). Here, we report two brothers suffering from chronic cryptosporidiosis, severe diarrhea, and cholangitis. Pan T, B, and NK cell numbers were normal, but immunophenotyping revealed defective B cell differentiation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00606-7DOI Listing
February 2019
1 Read

A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency.

J Clin Immunol 2019 Feb 22;39(2):144-147. Epub 2019 Mar 22.

Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00615-6DOI Listing
February 2019
1 Read

Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic Neutropenia.

J Clin Immunol 2019 Feb 21;39(2):200-206. Epub 2019 Mar 21.

Aix-Marseille University, APHM, Médecine Interne Hôpital de la Timone, 264 rue Saint Pierre, 13385 cedex 5, Marseille, France.

Purpose: Neonatal immune neutropenia is observed in rare cases in newborns from mothers with idiopathic or autoimmune neutropenia, secondary to passive transfer of maternal granulocyte auto-antibodies.

Methods: We performed a literature review and report four supplementary cases from the French registry of neutropenia.

Results: Only 14 cases (11 mothers, 14 newborns) have been reported. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00608-5DOI Listing
February 2019
1 Read

Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.

J Clin Immunol 2019 Feb 13;39(2):195-199. Epub 2019 Mar 13.

Great North Children's Hospital, Clinical Resource Building, Floor 4, Block 2, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK.

X-linked chronic granulomatous disease (XL-CGD), a rare primary immunodeficiency due to a defect in the gp91 NADPH oxidase subunit, results in recurrent, severe infection, inflammation, and autoimmunity. Patients have an absent, or significantly reduced, neutrophil oxidative burst. Due to lyonization, XL-CGD carriers have a dual population of functional and non-functional phagocytes and experience a range of symptoms including increased risk of autoimmunity, fatigue, and infection. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00607-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445821PMC
February 2019
3 Reads

Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses.

J Clin Immunol 2019 Mar 12. Epub 2019 Mar 12.

Department of Immunology-Histocompatibility, Specialized Center & Referral Center for Primary Immunodeficiencies, Paediatric Immunology, "Aghia Sophia" Children's Hospital, Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00611-wDOI Listing

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.

J Clin Immunol 2019 Mar 5. Epub 2019 Mar 5.

Laboratory for Inborn Errors of Immunity, Department of Immunology and Microbiology, KU Leuven, Leuven, EU, Belgium.

DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves various cellular functions including the reorganization of the actin cytoskeleton in lymphocytes and neutrophils and production of reactive oxygen species in neutrophils. Since 2015, six unrelated patients with combined immunodeficiency and early-onset severe viral infections caused by bi-allelic loss-of-function mutations in DOCK2 have been described. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00603-wDOI Listing
March 2019
9 Reads

Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.

J Clin Immunol 2019 Feb 27;39(2):188-194. Epub 2019 Feb 27.

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

Purpose: Tumor necrosis factor alpha-induced protein 3 (TNFAIP3, A20) is a negative regulator of the nuclear factor-κB (NF-κB) pathway. It has recently been recognized that TNFAIP3 deficiency leads to early onset of autoinflammatory and autoimmune syndrome resembling Behçet's disease. Here, we report a novel mutation in TNFAIP3 in a Chinese patient, who had Behçet-like phenotype and persistent Epstein-Barr virus (EBV) viremia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00604-9DOI Listing
February 2019
4 Reads

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Authors:

J Clin Immunol 2019 Feb;39(Suppl 1):1-151

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00597-5DOI Listing
February 2019

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.

J Clin Immunol 2019 Feb 22;39(2):138-141. Epub 2019 Feb 22.

Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00599-3DOI Listing
February 2019
3.184 Impact Factor

IFN-g:IL-10 Ratio: a Putative Predictive Biomarker to Discriminate HLH From Severe Viral Infections.

J Clin Immunol 2019 Feb 19;39(2):135-137. Epub 2019 Feb 19.

Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), 13th floor, Multistoreyed Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00601-yDOI Listing
February 2019

Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India.

J Clin Immunol 2019 Feb 18;39(2):182-187. Epub 2019 Feb 18.

Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, 320, Padma complex, Anna salai, Teynampet, Chennai, Tamil Nadu, 600035, India.

Haploidentical stem cell transplantation (haplo SCT) has emerged as an acceptable alternative to matched family donor transplantation for children diagnosed to have primary immune deficiency disorders (PIDs). We present data over 4 years on the challenges and efficacy of unmanipulated T cell replete haplo SCTs with post-transplant cyclophosphamide (PTCy) in children diagnosed to have PIDs. We performed a retrospective study in the pediatric blood and marrow transplantation unit where all children less than 18 years of age diagnosed to have PIDs and who underwent haplo SCT with PTCy from January 2014 to February 2018 were included in the study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00600-zDOI Listing
February 2019
6 Reads

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis.

J Clin Immunol 2019 Feb 12;39(2):131-134. Epub 2019 Feb 12.

BGI-Shenzhen, Shenzhen, 518083, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-00598-4DOI Listing
February 2019
1 Read
3.184 Impact Factor

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;39(2):127-130. 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-0593-4
Publisher Site
http://dx.doi.org/10.1007/s10875-019-0593-4DOI Listing
February 2019
18 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-0589-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383808PMC
January 2019
6 Reads

Neurological Involvement in Childhood Evans Syndrome.

J Clin Immunol 2019 Feb 22;39(2):171-181. 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

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-0594-3
Publisher Site
http://dx.doi.org/10.1007/s10875-019-0594-3DOI Listing
February 2019
8 Reads

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

J Clin Immunol 2019 Feb 15;39(2):159-170. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-0592-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445807PMC
February 2019
4 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.

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-019-0591-6DOI Listing
January 2019
3 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0587-7DOI Listing
January 2019
11 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0586-8
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0586-8DOI Listing
January 2019
5 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0582-zDOI Listing
January 2019
3 Reads

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

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0581-0
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0581-0DOI Listing
January 2019
17 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0585-9DOI Listing
January 2019
3 Reads
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0572-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545PMC
January 2019
4 Reads

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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0578-8DOI Listing
January 2019
3 Reads