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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#1
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28536745/health-related-quality-of-life-in-adult-patients-with-common-variable-immunodeficiency-disorders-and-impact-of-treatment
#2
Nicholas L Rider, Carleigh Kutac, Joud Hajjar, Chris Scalchunes, Filiz O Seeborg, Marcia Boyle, Jordan S Orange
PURPOSE: Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment...
May 23, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28523402/advances-in-the-care-of-primary-immunodeficiencies-pids-from-birth-to-adulthood
#3
Nizar Mahlaoui, Klaus Warnatz, Alison Jones, Sarita Workman, Andrew Cant
Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. Patients with PIDs can present with, or develop during the course of their life, a susceptibility to recurrent and chronic infection along with autoimmune, allergic, inflammatory, and/or proliferative disorders, all potentially leading to end-organ damage. In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches...
May 18, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28508932/enterovirus-related-immune-reconstitution-inflammatory-syndrome-iris-following-haploidentical-stem-cell-transplantation-in-an-mhc-class-ii-deficient-child
#4
LETTER
Ravi M Shah, Sheila Waugh, Khuen F Ng, Andrew R Gennery, Mary Slatter, Andrew J Cant
No abstract text is available yet for this article.
May 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28503715/deficiency-of-interleukin-1-receptor-antagonist-dira-report-of-the-first-indian-patient-and-a-novel-deletion-affecting-il1rn
#5
Leonardo O Mendonca, Louise Malle, Frank X Donovan, Settara C Chandrasekharappa, Gina A Montealegre Sanchez, Megha Garg, Ulf Tedgard, Mariana Castells, Shiv S Saini, Sourabh Dutta, Raphaela Goldbach-Mansky, Deepti Suri, Adriana A Jesus
PURPOSE: Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomyelitis, and elevation of acute phase reactants. We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). The patient developed anaphylaxis to anakinra and was subsequently desensitized...
May 15, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28493158/common-variable-immunodeficiency-caused-by-fanc-mutations
#6
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4(+) T cells were skewed toward CD45RO(+) memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients...
May 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28417298/disseminated-mycobacterium-malmoense-and-salmonella-infections-associated-with-a-novel-variant-in-nfkbia
#7
LETTER
Emily Staples, Beatriz Morillo-Gutierrez, Jessica Davies, Daniel Petersheim, Michel Massaad, Mary Slatter, Dimitra Dimou, Rainer Doffinger, Scott Hackett, Dinkantha Kumararatne, James Hadfield, Matthew D Eldridge, Raif S Geha, Mario Abinun, James E D Thaventhiran
No abstract text is available yet for this article.
April 17, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28353164/preference-of-genetic-diagnosis-of-cxcr4-mutation-compared-with-clinical-diagnosis-of-whim-syndrome
#8
LETTER
Asghar Aghamohammadi, Hassan Abolhassani, Jacek Puchalka, Naschla Greif-Kohistani, Samaneh Zoghi, Christoph Klein, Nima Rezaei
No abstract text is available yet for this article.
March 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28303442/different-immunological-pathways-underlie-the-immune-response-to-pneumococcal-polysaccharides
#9
LETTER
Leen Moens, Capucine Picard, Mohammad Shahrooei, Greet Wuyts, Adrian Liston, Alain Fischer, Xavier Bossuyt
No abstract text is available yet for this article.
March 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28265964/rescue-of-cytokine-storm-due-to-hlh-by-hemoadsorption-in-a-ctla4-deficient-patient
#10
LETTER
Christine Greil, Fabian Roether, Paul La Rosée, Bodo Grimbacher, Daniel Duerschmied, Klaus Warnatz
No abstract text is available yet for this article.
March 6, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28488145/anti-pneumococcal-vaccine-induced-cellular-immune-responses-in-post-traumatic-splenectomized-individuals
#11
Djursun Karasartova, Umut Gazi, Ozgur Tosun, Ayse S Gureser, Ibrahim T Sahiner, Mete Dolapci, Aysegul T Ozkan
PURPOSE: Splenectomy is associated with increased risk of overwhelming post-splenectomy infections despite proper anti-pneumococcal vaccination. As most studies concentrated on vaccination-induced humoral immunity, the cellular immune responses triggered in splenectomized patients are not yet well studied. The present study aims to investigate this area as it can contribute to the development of more effective vaccination strategies. METHODS: Five healthy and 14 splenectomized patients were vaccinated with pneumococcal conjugate polysaccharide vaccine (PCV) followed by pneumococcal polysaccharide vaccine according to the guidelines established by Advisory Committee on Immunization Practices...
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28484900/diagnostic-delay-of-primary-immunodeficiencies-at-a-tertiary-care-hospital-in-peru-brief-report
#12
Liz E Veramendi-Espinoza, Jessica H Zafra-Tanaka, Gabriela A Pérez-Casquino, Wilmer O Córdova-Calderón
OBJECTIVE: The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru. METHODS: A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis of PID were excluded. Data was collected by reviewing the medical records and interviewing patients' family members. RESULTS: A total of 45 patients with a mean of 7...
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28432485/persistent-impairment-of-t-cell-regeneration-in-a-patient-with-activated-pi3k-%C3%AE-syndrome
#13
LETTER
Fumihiro Goto, Toru Uchiyama, Yumiko Nakazawa, Kohsuke Imai, Toshinao Kawai, Masafumi Onodera
No abstract text is available yet for this article.
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28429104/paecilomyces-formosus-infection-in-an-adult-patient-with-undiagnosed-chronic-granulomatous-disease
#14
LETTER
Jalal Heshmatnia, Majid Marjani, Seyed Alireza Mahdaviani, Parvaneh Adimi, Mihan Pourabdollah, Payam Tabarsi, Fereshte Mahdavi, Hamidreza Jamaati, Ian M Adcock, Johan Garssen, Aliakbar Velayati, Davood Mansouri, Esmaeil Mortaz
No abstract text is available yet for this article.
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28429103/resolution-of-primary-immune-defect-in-22q11-2-deletion-syndrome
#15
Yiwa Suksawat, Achara Sathienkijkanchai, Jittima Veskitkul, Orathai Jirapongsananuruk, Nualanong Visitsunthorn, Pakit Vichyanond, Punchama Pacharn
PURPOSE: Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11.2 deletion syndrome. METHODS: Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in situ hybridization (FISH) were studied. Immunological parameters were evaluated every 6 months until patients returned to normal...
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28386703/erratum-to-low-iga-and-igm-is-associated-with-a-higher-prevalence-of-bronchiectasis-in-primary-antibody-deficiency
#16
John P Hodkinson, Catherine Bangs, Andrea Wartenberg-Demand, Artur Bauhofer, Patrick Langohr, Matthew S Buckland, David Guzman, Patrick F K Yong, Sorena Kiani-Alikhan
No abstract text is available yet for this article.
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28386702/placental-transfer-of-canakinumab-in-a-patient-with-muckle-wells-syndrome
#17
LETTER
Makiko Egawa, Kohsuke Imai, Masaaki Mori, Naoyuki Miyasaka, Tetsuo Kubota
No abstract text is available yet for this article.
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28378256/first-case-of-x-linked-moesin-deficiency-identified-after-newborn-screening-for-scid
#18
LETTER
Ottavia M Delmonte, Catherine M Biggs, Anthony Hayward, Anne M Comeau, Hye Sun Kuehn, Sergio D Rosenzweig, Luigi D Notarangelo
No abstract text is available yet for this article.
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28353166/immunodeficiencies-associated-with-abnormal-newborn-screening-for-t-cell-and-b-cell-lymphopenia
#19
Soma Jyonouchi, Artemio M Jongco, Jennifer Puck, Kathleen E Sullivan
Newborn screening for SCID has revealed the association of low T cells with a number of unexpected syndromes associated with low T cells, some of which were not appreciated to have this feature. This review will discuss diagnostic approaches and the features of some of the syndromes likely to be encountered following newborn screening for immune deficiencies.
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28353165/poikiloderma-with-neutropenia-in-morocco-a-report-of-four-cases
#20
Ayoub Aglaguel, Houria Abdelghaffar, Fatima Ailal, Norddine Habti, Sebastian Hesse, Naschla Kohistani, Christoph Klein, Ahmed Aziz Bousfiha
PURPOSE: Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood. From 2011 to 2013, four cases of PN were diagnosed in Morocco. In this paper, we report the first four cases of PN diagnosed in Morocco, out of three unrelated consanguinous families...
May 2017: Journal of Clinical Immunology
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