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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/28808844/bialellic-mutations-in-tetratricopeptide-repeat-domain-7a-ttc7a-cause-common-variable-immunodeficiency-like-phenotype-with-enteropathy
#1
LETTER
Dylan Lawless, Anoop Mistry, Philip M Wood, Jens Stahlschmidt, Gururaj Arumugakani, Mark Hull, David Parry, Rashida Anwar, Clive Carter, Sinisa Savic
No abstract text is available yet for this article.
August 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28803389/gastrointestinal-manifestations-of-stat3-deficient-hyper-ige-syndrome
#2
Manish Arora, Preet Bagi, Anna Strongin, Jennifer Heimall, Xiongce Zhao, Monica G Lawrence, Apurva Trivedi, Carolyn Henderson, Amy Hsu, Martha Quezado, David E Kleiner, Aradhana M Venkatesan, Steven M Holland, Alexandra F Freeman, Theo Heller
OBJECTIVE: STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations. We sought to describe the gastrointestinal (GI) manifestations of this disease. METHODS: Seventy subjects aged five to 60 years with a molecular diagnosis of AD-HIES were evaluated at the National Institutes of Health (NIH)...
August 13, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28786026/emerging-infections-and-pertinent-infections-related-to-travel-for-patients-with-primary-immunodeficiencies
#3
Kathleen E Sullivan, Hamid Bassiri, Ahmed A Bousfiha, Beatriz T Costa-Carvalho, Alexandra F Freeman, David Hagin, Yu L Lau, Michail S Lionakis, Ileana Moreira, Jorge A Pinto, M Isabel de Moraes-Pinto, Amit Rawat, Shereen M Reda, Saul Oswaldo Lugo Reyes, Oyl Mikko Seppänen, Mimi L K Tang
In today's global economy and affordable vacation travel, it is increasingly important that visitors to another country and their physician be familiar with emerging infections, infections unique to a specific geographic region, and risks related to the process of travel. This is never more important than for patients with primary immunodeficiency disorders (PIDD). A recent review addressing common causes of fever in travelers provides important information for the general population Thwaites and Day (N Engl J Med 376:548-560, 2017)...
August 7, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28779413/rituximab-restores-ifn-%C3%AE-stat1-function-and-ameliorates-disseminated-mycobacterium-avium-infection-in-a-patient-with-anti-interferon-%C3%AE-autoantibody
#4
Yusuke Koizumi, Takuro Sakagami, Naoya Nishiyama, Jun Hirai, Yuta Hayashi, Nobuhiro Asai, Yuka Yamagishi, Hideo Kato, Mao Hagihara, Daisuke Sakanashi, Hiroyuki Suematsu, Kenji Ogawa, Hiroshige Mikamo
A 67-year-old Japanese female with back pain and severe cachexia visited our hospital. The diagnosis was disseminated Mycobacterium avium complex infection (dMAC) with multiple bone involvement. Anti-mycobacterial chemotherapy was started, but fever persisted and dislocation of cervical vertebrae has made her bedridden. Because anti-interferon (IFN)-γ autoantibody was positive, four doses of rituximab 375 mg/m(2), every 7 day, were administered. Soon after treatment, progression of osteolytic lesions and wasting has stopped...
August 5, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28755067/efficacy-and-safety-of-human-intravenous-immunoglobulin-10-panzyga%C3%A2-in-patients-with-primary-immunodeficiency-diseases-a-two-stage-multicenter-prospective-open-label-study
#5
Michael Borte, Isaac R Melamed, Grazyna Pulka, Barbara Pyringer, Alan P Knutsen, Hans D Ochs, Roger H Kobayashi, Ai Lan Kobayashi, Sudhir Gupta, Magdalena Strach, William Smits, Anna Pituch-Noworolska, James N Moy
PURPOSE: To assess the efficacy and safety of panzyga® (intravenous immunoglobulin 10%) in preventing serious bacterial infections (SBIs) in patients with primary immunodeficiency diseases (PIDs), a prospective, open-label, multicenter, phase 3 study and an open-label extension study were undertaken. METHODS: Initially, the study drug (infusion rate ≤0.08 mL/kg/min) was administered at intervals of 3 or 4 weeks for 12 months, followed by 3 months of panzyga® at infusion rates increasing from 0...
July 29, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28755066/two-sides-of-the-same-coin-pediatric-onset-and-adult-onset-common-variable-immune-deficiency
#6
Lauren A Sanchez, Solrun Melkorka Maggadottir, Matthew S Pantell, Patricia Lugar, Charlotte Cunningham Rundles, Kathleen E Sullivan
PURPOSE: Common variable immunodeficiency (CVID) is a complex, heterogeneous immunodeficiency characterized by hypogammaglobulinemia, recurrent infections, and poor antibody response to vaccination. While antibiotics and immunoglobulin prophylaxis have significantly reduced infectious complications, non-infectious complications of autoimmunity, inflammatory lung disease, enteropathy, and malignancy remain of great concern. Previous studies have suggested that CVID patients diagnosed in childhood are more severely affected by these complications than adults diagnosed later in life...
July 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28752258/allogeneic-reduced-intensity-hematopoietic-stem-cell-transplantation-for-chronic-granulomatous-disease-a-single-center-prospective-trial
#7
Mark Parta, Corin Kelly, Nana Kwatemaa, Narda Theobald, Diane Hilligoss, Jing Qin, Douglas B Kuhns, Christa Zerbe, Steven M Holland, Harry Malech, Elizabeth M Kang
PURPOSE: The purpose of this study was to evaluate engraftment and adverse events with a conditioning and prophylactic regimen intended to achieve high rates of engraftment with minimal graft-versus-host disease (GVHD) in allogeneic transplantation for chronic granulomatous disease in a single center. METHODS: Forty patients, 37 male, with chronic granulomatous disease were transplanted. Transplant products were matched sibling peripheral blood stem cells (PBSCs) in four and matched unrelated donor (MUD) bone marrow in three, and one patient received mismatched unrelated PBSCs...
July 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28748310/long-term-outcome-of-adenosine-deaminase-deficient-patients-a-single-center-experience
#8
Ori Scott, Vy Hong-Diep Kim, Brenda Reid, Anne Pham-Huy, Adelle R Atkinson, Alessandro Aiuti, Eyal Grunebaum
PURPOSE: Inherited defects in the adenosine deaminase (ADA) enzyme can cause severe combined immune deficiency (SCID) and systemic abnormalities. Management options for ADA-deficient patients include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy (GT). Here, we describe the long-term benefits of these treatments. METHODS: Survival, infections, systemic sequelae, and laboratory assessments were recorded for all ADA-deficient SCID patients, managed at a single center since 1985, who survived 5 or more years following treatment...
July 26, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#9
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28730517/selective-igm-deficiency-clinical-and-laboratory-features-of-17-patients-and-a-review-of-the-literature
#10
Zita Chovancova, Pavlina Kralickova, Alena Pejchalova, Marketa Bloomfield, Jana Nechvatalova, Marcela Vlkova, Jiri Litzman
PURPOSE: Primary selective IgM deficiency (sIgMD) is a primary immunodeficiency with unclear pathogenesis and a low number of published cases. METHODS: We reviewed clinical and laboratory manifestations of 17 sIgMD patients. Serum IgM, IgG, and its subclasses, IgA, IgE, antibodies against tetanus toxoid, pneumococcal polysaccharides and Haemophilus influenzae type b, isohemagglutinins, and T and B lymphocyte subsets, expressions of IgM on B cells and B lymphocyte production of IgM were compared with previously reported case reports and a small series of patients, which included 81 subjects in total...
July 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28711959/a-multicentre-study-on-the-efficacy-safety-and-pharmacokinetics-of-iqymune%C3%A2-a-highly-purified-10-liquid-intravenous-immunoglobulin-in-patients-with-primary-immune-deficiency
#11
Gergely Krivan, Ludmila Chernyshova, Larysa Kostyuchenko, Andrzej Lange, Zoltan Nyul, Beata Derfalvi, Jacek Musial, Anne Bellon, Martin Kappler, Alain Sadoun, Ewa Bernatowska
This multicentre, open-label, prospective, single-arm study was designed to evaluate the efficacy, pharmacokinetics, and safety of IqYmune®, a highly purified 10% polyvalent immunoglobulin preparation for intravenous administration in patients with primary immunodeficiency. IqYmune® was administered to 62 patients (aged 2-61 years) with X-linked agammaglobulinemia or common variable immune deficiency at a dose from 0.22 to 0.97 g/kg every 3 to 4 weeks for 12 months with an infusion rate up to 8 mL/kg/h...
July 15, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28702714/immunodeficiency-in-two-female-patients-with-incontinentia-pigmenti-with-heterozygous-nemo-mutation-diagnosed-by-lps-unresponsiveness
#12
Hidenori Ohnishi, Yuka Kishimoto, Tomohide Taguchi, Norio Kawamoto, Mina Nakama, Tomoki Kawai, Manabu Nakayama, Osamu Ohara, Kenji Orii, Toshiyuki Fukao
PURPOSE: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Here, we investigated two female patients with IP and immunodeficiency. METHODS: The patients were initially suspected to have IRAK4 deficiency and Mendelian susceptibility to mycobacterial disease, respectively, because of recurrent pneumonia with delayed umbilical cord detachment or disseminated mycobacterial infectious disease...
July 12, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28698914/multiple-brain-abscesses-caused-by-trichosporon-inkin-in-a-patient-with-x-linked-chronic-granulomatous-disease-cgd-successfully-treated-with-antifungal-therapy
#13
LETTER
Joud Hajjar, Alejandro Restrepo, Heta Javeri, Nathan P Wiederhold, Alexander M Papanastassiou, Thomas F Patterson
No abstract text is available yet for this article.
July 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28695366/assessment-of-local-adverse-reactions-to-subcutaneous-immunoglobulin-scig-in-clinical-trials
#14
LETTER
Mark Ballow, Richard L Wasserman, Stephen Jolles, Helen Chapel, Mel Berger, Siraj A Misbah
No abstract text is available yet for this article.
July 10, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28681255/delayed-puberty-and-gonadal-failure-in-patients-with-hax1-mutation
#15
Sukru Cekic, Halil Saglam, Orhan Gorukmez, Tahsin Yakut, Omer Tarim, Sara S Kilic
PURPOSE: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. METHOD: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated...
July 5, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28639167/azathioprine-associated-complete-nk-cell-deficiency
#16
LETTER
Amir B Orandi, Tiphanie P Vogel, Molly P Keppel, Elizabeth C Utterson, Megan A Cooper
No abstract text is available yet for this article.
June 22, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28639166/ifn%C3%A9-block-treosulfan-conditioning-and-%C3%AE-%C3%AE-t-cell-deplete-pbsct-for-xiap-deficient-hlh
#17
LETTER
Ciara O'Rafferty, Mark Velangi, Sarah Lawson, Prashant Hiwarkar, Jayashree Motwani
No abstract text is available yet for this article.
June 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28631025/diverse-autoantibody-reactivity-in-cartilage-hair-hypoplasia
#18
LETTER
Catherine M Biggs, Svetlana Kostjukovits, Kerry Dobbs, Saila Laakso, Paula Klemetti, Helena Valta, Mervi Taskinen, Outi Mäkitie, Luigi D Notarangelo
No abstract text is available yet for this article.
June 19, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28624913/persistent-skin-pouches-following-subcutaneous-immunoglobulin-infusions-in-a-girl-with-immunodeficiency-bullous-skin-lesions-and-melanosis-oculi
#19
LETTER
Renate Krüger, Cornelia Feiterna-Sperling, Ulrike Blume-Peytavi, Birgit Lala, Horst von Bernuth, Volker Wahn
No abstract text is available yet for this article.
June 17, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28601916/thyroid-carcinoma-in-a-child-with-activated-phosphoinositide-3-kinase-%C3%AE-syndrome-somatic-effect-of-a-germline-mutation
#20
LETTER
Giorgia Bucciol, Lien Willems, Esther Hauben, Anne Uyttebroeck, Marijke Proesmans, Isabelle Meyts
No abstract text is available yet for this article.
June 11, 2017: Journal of Clinical Immunology
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