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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/28224354/a-stable-mixed-chimera-after-sct-with-ric-in-an-infant-with-i%C3%AE%C2%BAb%C3%AE-hypermorphic-mutation
#1
LETTER
Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
No abstract text is available yet for this article.
February 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28224353/diagnosis-of-interstitial-lung-disease-caused-by-possible-hypersensitivity-pneumonitis-in-a-child-think-cgd
#2
LETTER
Saliha Esenboga, Nagehan Emiralioglu, Deniz Cagdas, Baran Erman, Martin De Boer, Berna Oguz, Nural Kiper, İlhan Tezcan
Interstitial lung disease (ILD) is a rare and heterogeneous group of disorder affecting the lung parenchyma and has a detrimental effect on gas exchange. Chronic granulomatous disease (CGD), when it affects primarily lungs, may cause ILD. We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who atypically presented with ILD. The patient had many pigeons and was a pigeon breeder. Exacerbated clinical symptoms were linked to hypersensitivity pneumonitis (HP), and the patient was suggested to keep away from pigeons...
February 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28197791/clinical-manifestations-and-genetic-analysis-of-17-patients-with-autosomal-dominant-hyper-ige-syndrome-in-mainland-china-new-reports-and-a-literature-review
#3
Jing Wu, Ji Chen, Zhi-Qing Tian, Hao Zhang, Ruo-Lan Gong, Tong-Xin Chen, Li Hong
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). Signal transducer and activator of transcription 3 (STAT3) gene mutation is found to cause AD-HIES. The distribution of AD-HIES patients with STAT3 deficiency in the Chinese population is not clear. Herein, we retrospectively report 17 AD-HIES patients with STAT3 deficiency and demonstrate their clinical, immunological, and genetic features. METHODS: Patients' clinical data were collected from their medical records...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28194615/how-we-manage-adenosine-deaminase-deficient-severe-combined-immune-deficiency-ada-scid
#4
Donald B Kohn, H Bobby Gaspar
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with more frequent early diagnosis due to implementation of newborn screening for SCID. We review the various treatment approaches for ADA SCID including allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen-matched sibling or family member or from a matched unrelated donor or a haplo-identical donor, autologous HSCT with gene correction of the hematopoietic stem cells (gene therapy-GT), and enzyme replacement therapy (ERT) with polyethylene glycol-conjugated adenosine deaminase...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28188499/2017-cis-annual-meeting-immune-deficiency-dysregulation-north-american-conference
#5
(no author information available yet)
No abstract text is available yet for this article.
February 10, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28160239/impact-of-site-of-care-on-infection-rates-among-patients-with-primary-immunodeficiency-diseases-receiving-intravenous-immunoglobulin-therapy
#6
Richard L Wasserman, Diane Ito, Yan Xiong, Xiaolan Ye, Patrick Bonnet, Josephine Li-McLeod
PURPOSE: Patients with primary immunodeficiency diseases (PIDD) are at increased risk of infection and may require lifelong immunoglobulin G (IgG) replacement. Infection incidence rates were determined for patients with PIDD receiving intravenously administered IgG (IGIV) in a home or hospital outpatient infusion center (HOIC). METHODS: Data were extracted from a large, US-based, employer-sponsored administrative database. Patients were eligible for analysis if they had ≥1 inpatient or emergency room claim or ≥2 outpatient claims with a PIDD diagnosis between January 2002 and March 2013, 12 months of continuous health plan enrollment prior to index date (i...
February 3, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28130637/respiratory-complications-lead-to-the-diagnosis-of-chronic-granulomatous-disease-in-two-adult-patients
#7
LETTER
Sylvie Colin de Verdière, Esther Noel, Claire Lozano, Emilie Catherinot, Mickael Martin, Elisabeth Rivaud, Louis-Jean Couderc, Hélène Salvator, Jacinta Bustamante, Thierry Martin
Chronic granulomatous disease (CGD) is a primary immunodeficiency associated to multiple life-threatening bacterial and fungal infections, beginning in childhood. There are rare cases of diagnosis in adulthood. We describe here two cases of late diagnosis in adults: a 45-year-old woman and 59-year-old-man. CGD diagnosis should be considered in adult patients with unexplained infectious diseases with tissue granuloma.
January 27, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28127684/erratum-to-increased-mucosal-il-22-production-of-an-il-10ra-mutation-patient-following-anakinra-treatment-suggests-further-mechanism-for-mucosal-healing
#8
Jian Li, Dror S Shouval, Andria L Doty, Scott B Snapper, Sarah C Glover
No abstract text is available yet for this article.
January 27, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28124237/increased-incidence-of-fatigue-in-patients-with-primary-immunodeficiency-disorders-prevalence-and-associations-within-the-us-immunodeficiency-network-registry
#9
Joud Hajjar, Danielle Guffey, Charles G Minard, Jordan S Orange
INTRODUCTION: Patients with primary immunodeficiency (PID) often report fatigue, yet this symptom has not been studied in PID. Fatigue affects 6-7.5% of healthy adults. The goal of this study is to estimate the prevalence of fatigue in patients with PID and investigate its associated factors. METHODS: We analyzed 2537 PID patients registered in USIDNET to determine responses to the field "fatigue" in the core registry form. Demographics, immune phenotypes, and comorbid conditions were compared between fatigued and non-fatigued patients to identify relevant associations and potential drivers...
January 26, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28064389/increased-mucosal-il-22-production-of-an-il-10ra-mutation-patient-following-anakinra-treatment-suggests-further-mechanism-for-mucosal-healing
#10
LETTER
Jian Li, Dror S Shouval, Andria L Doty, Scott B Snapper, Sarah C Glover
No abstract text is available yet for this article.
January 7, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28035544/chronic-granulomatous-disease-due-to-neutrophil-cytosolic-factor-ncf2-gene-mutations-in-three-unrelated-families
#11
LETTER
Pandiarajan Vignesh, Amit Rawat, Ankur Kumar, Deepti Suri, Anju Gupta, Yu L Lau, Koon W Chan, Surjit Singh
Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. A homozygous mutation (c.835_836delAC, p.T279fsX294), a deletion in NCF2 gene was found in two cases. In the third case, two heterozygous mutations were detected, IVS13-2A>T on one allele and c...
December 29, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28013480/disseminated-cryptococcosis-due-to-anti-granulocyte-macrophage-colony-stimulating-factor-autoantibodies-in-the-absence-of-pulmonary-alveolar-proteinosis
#12
Chen-Yen Kuo, Shang-Yu Wang, Han-Po Shih, Kun-Hua Tu, Wen-Chi Huang, Jing-Ya Ding, Chia-Hao Lin, Chun-Fu Yeh, Mao-Wang Ho, Shi-Chuan Chang, Chi-Ying He, Hung-Kai Chen, Chen-Hsuan Ho, Chen-Hsiang Lee, Chih-Yu Chi, Cheng-Lung Ku
INTRODUCTION: Autoantibodies to granulocyte-macrophage colony-stimulating factor (GM-CSF) can cause acquired pulmonary alveolar proteinosis (PAP). Cases of acquired PAP susceptible to typical respiratory pathogens and opportunistic infections have been reported. Anti-GM-CSF autoantibodies have been reported in a few patients with cryptococcal meningitis. This study evaluated the presence of neutralizing anti-GM-CSF autoantibodies in patients without known congenital or acquired immunodeficiency with severe pulmonary or extrapulmonary cryptococcal infection but without PAP...
December 24, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28000062/circulating-t-cells-of-patients-with-nijmegen-breakage-syndrome-show-signs-of-senescence
#13
Ruud W J Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A C van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J M van Dongen, Krystyna H Chrzanowska, Anton W Langerak
PURPOSE: The Nijmegen breakage syndrome (NBS) is an inherited genetic disorder characterized by a typical facial appearance, microcephaly, growth retardation, immunodeficiency, and a strong predisposition to malignancies, especially of lymphoid origin. NBS patients have a mutation in the NBN gene which involves the repair of DNA double-strand breaks (DSBs). Here we studied the peripheral T cell compartment of NBS patients with a focus on immunological senescence. METHODS: The absolute numbers and frequencies of the different T cell subsets were determined in NBS patients from young age till adulthood and compared to age-matched healthy individuals (HI)...
December 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27966181/longstanding-eosinophilia-in-a-case-of-late-diagnosis-chronic-granulomatous-disease
#14
LETTER
Alan Nguyen, Kiran Patel, Jennifer Puck, Morna Dorsey
No abstract text is available yet for this article.
December 13, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27943080/kostmann-s-disease-and-hcls1-associated-protein-x-1-hax1
#15
REVIEW
Christoph Klein
Severe congenital neutropenia (SCN), originally described by the Swedish pediatrician Rolf Kostmann, constitutes a heterogeneous disorder associated with a dramatic decrease of peripheral neutrophil granulocytes. Patients suffer from life-threatening bacterial infections unless treated by recombinant human granulocyte colony stimulating factor (G-CSF) or allogeneic hematopoietic stem cells. This review is focused on the SCN variant caused by mutations in HCLS1 Associated Protein X-1 (HAX1) (SCN3, "Kostmann Disease")...
December 10, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27943029/erratum-to-familial-chronic-granulomatous-disease-affecting-three-siblings-and-causing-recurrent-tuberculosis
#16
Noella Maria Delia Pereira, Ira Shah
No abstract text is available yet for this article.
December 10, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27943079/assessment-of-type-i-interferon-signaling-in-pediatric-inflammatory-disease
#17
Gillian I Rice, Isabelle Melki, Marie-Louise Frémond, Tracy A Briggs, Mathieu P Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader-Meunier, Alexandre Belot, Christine Bodemer, Pierre Quartier, Yanick J Crow
PURPOSE: Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology, and dermatology. However, no test exists in routine clinical practice to identify enhanced interferon signaling, thus limiting the ability to diagnose and monitor treatment of these diseases. Here, we set out to investigate the use of an assay measuring the expression of a panel of interferon-stimulated genes (ISGs) in children affected by a range of inflammatory diseases...
December 9, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27924436/resolution-of-multifocal-epstein-barr-virus-related-smooth-muscle-tumor-in-a-patient-with-gata2-deficiency-following-hematopoietic-stem-cell-transplantation
#18
Mark Parta, Jennifer Cuellar-Rodriguez, Alexandra F Freeman, Juan Gea-Banacloche, Steven M Holland, Dennis D Hickstein
We performed allogeneic hematopoietic stem cell transplantation in a patient with GATA2 deficiency and an Epstein-Barr virus (EBV)-related spindle cell tumor involving the liver and possibly bone. He received a matched-related donor transplant with donor peripheral blood stem cells following a myeloablative conditioning regimen. He achieved rapid and high levels of donor engraftment and had complete reversal of the clinical and immunologic phenotype of MonoMAC/GATA2 deficiency and eradication of the EBV tumors after 3 years of follow-up...
December 6, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27913909/postpartum-hla-matched-bone-marrow-donation-from-mother-to-neonate-for-reticular-dysgenesis
#19
LETTER
Gregory M T Guilcher, Nicola A M Wright, Tony H Truong, Andrew Daly, Victor A Lewis
No abstract text is available yet for this article.
December 3, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27900584/low-t-cell-numbers-resembling-t-b-scid-in-a-patient-with-wiskott-aldrich-syndrome-and-the-outcome-of-two-hematopoietic-stem-cell-transplantations
#20
LETTER
Deniz Cagdas, Selin Aytac, Barış Kuskonmaz, Tadashi Ariga, Mirjam van der Burg, Duygu Uckan Cetinkaya, Özden Sanal, İlhan Tezcan
No abstract text is available yet for this article.
November 30, 2016: Journal of Clinical Immunology
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