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Joanna Renke, Magdalena Lange, Joanna Dawicka, Elżbieta Adamkiewicz-Drożyńska
Mastocytosis is a disease caused by the accumulation of mast cells (MC) in the skin and/or in other tissues. Both the cutaneous form of the disease (CM) predominating in children and the systemic form (SM) typical for adults are associated with the occurrence of MC mediator-related symptoms. The release of mediators can be induced by physical stimuli and/or specific triggering factors. The routine vaccination program performed in the majority of children in infancy can be considered as an additional factor provoking exacerbation of CM...
2016: Central-European Journal of Immunology
R Yazdani, R Seify, M Ganjalikhani-Hakemi, H Abolhassani, N Eskandari, F Golsaz-Shirazi, B Ansaripour, E Salehi, G Azizi, N Rezaei, A Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is a heterogeneous disease, characterised by hypogammaglobulinaemia leading to recurrent infections and various complications. The aim of this study was to classify CVID patients based on four known classifications (Paris, Freiburg, EUROclass, and B-cell patterns) by measurement of B-cell subsets and to assess the relation of each classification with clinical manifestations. METHODS: We measured all B-cell subsets as both absolute count and percentage in 30 CVID patients and 30 healthy individuals using four-colour flow cytometry...
October 4, 2016: Allergologia et Immunopathologia
C Poli, R Hoyos-Bachiloglu, A Borzutzky
BACKGROUND: The epidemiology and hospitalisation trends of primary immunodeficiency (PID) in Chile are unknown. We aimed to evaluate hospitalisation trends and demographic characteristics of PID admissions in Chile. METHODS: PID admissions between 2001 and 2010 (ICD-10 codes D70.0, D70.4, D71, 72.0, D76.1, D80-D84, E70.3, G11.3) were reviewed using national hospital discharge databases. RESULTS: During the study period, 5486 admissions due to PID were registered (0...
January 2017: Allergologia et Immunopathologia
Lorraine Thong, Barry J Plant, Julie McCarthy, Desmond M Murphy
A 58-year old lady under active follow-up with the respiratory services at our institution for bronchiectasis secondary to hypogammaglobulinaemia presented with hoarseness and haemoptysis. She was also receiving rituximab maintenance therapy for follicular lymphoma. Bronchoscopy demonstrated vesicular lesions on her vocal cords and trachea, confirmed as herpes simplex virus (HSV) on cytological analysis of brushings. She responded well to intravenous valacyclovir. Rituximab is increasingly utilised in the treatment of haematological and auto-immune disorders...
July 2016: Respirology Case Reports
Delfien J A Bogaert, Melissa Dullaers, Bart N Lambrecht, Karim Y Vermaelen, Elfride De Baere, Filomeen Haerynck
Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2 With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities...
September 2016: Journal of Medical Genetics
Mikael Ebbo, Laurence Gérard, Sabrina Carpentier, Frédéric Vély, Sophie Cypowyj, Catherine Farnarier, Nicolas Vince, Marion Malphettes, Claire Fieschi, Eric Oksenhendler, Nicolas Schleinitz, Eric Vivier
Natural Killer (NK) cells have been shown to exert antiviral and antitumoural activities. Nevertheless most available data are derived from mouse models and functions of these cells in human remain unclear. To evaluate the impact of low circulating NK cell counts and to provide some clues to the role of NK cells in natural conditions, we studied a large cohort of patients with common variable immunodeficiency (CVID) included in a multicenter cohort of patients with primary hypogammaglobulinaemia. Patients were classified into three groups on the basis of their NK cell counts: severe and mild NK cell lymphopenia (<50 and 50-99×10(6)/L respectively), and normal NK cell counts (>100×10(6)/L)...
April 2016: EBioMedicine
Priyanka Chadha, Dorian Hobday, Edmund Fitzgerald O'Connor, David D'Cruz
We present the case of a 69-year-old man who was found collapsed close to a heat source and admitted to hospital for severe sepsis. He was also found to have widespread blistering and ulceration of his right leg; however, a history was unobtainable due to reduced consciousness levels. The leg lesions had the initial appearance of mixed depth burns and a management plan was made to transfer the patient to a burns unit for debridement. It was subsequently noted that the patient had a previous diagnosis of seropositive erosive rheumatoid arthritis...
April 26, 2016: BMJ Case Reports
William R Shadish, David M Rindskopf, Jonathan G Boyajian
OBJECTIVES: We reanalyzed data from a previous randomized crossover design that administered high or low doses of intravenous immunoglobulin (IgG) to 12 patients with hypogammaglobulinaemia over 12 time points, with crossover after time 6. The objective was to see if results corresponded when analyzed as a set of single-case experimental designs vs. as a usual randomized controlled trial (RCT). STUDY DESIGN AND SETTINGS: Two blinded statisticians independently analyzed results...
August 2016: Journal of Clinical Epidemiology
Matthieu Mahévas, Marc Michel, Bertrand Godeau
With prolonged life expectancy, immune thrombocytopenia (ITP) is frequent in elderly people. In this setting, ITP diagnosis is challenging because of the concern about an underlying myelodysplastic syndrome. Studies of older adults are lacking, and recommendations for treatment are based mainly on expert opinion. The therapeutic strategy differs from that for younger patients and must take into account the greater risk of bleeding and thrombosis, presence of comorbidities, possible impaired cognitive performance or poor life expectancy and concomitant medications, such as anticoagulant and antiplatelet therapy...
June 2016: British Journal of Haematology
Emilie Reboursiere, H Fouques, G Maigne, H Johnson, S Chantepie, A C Gac, O Reman, M Macro, K Benabed, X Troussard, G Damaj, S Cheze
Splenectomy remains the preferred treatment for chronic immune thrombocytopenia (ITP) after corticosteroid failure, despite the risks of despite surgical complications and infection. The aim of this study was to assess the efficacy of and tolerance to rituximab through a retrospective analysis of 35 refractory/relapsing ITP patients treated from 2004 to 2013. The median age of subjects was 46 years (14-80). Rituximab was given at a weekly dose of 375 mg/m(2) for 4 weeks. Median time from diagnosis to first infusion was 17 months (1-362) and follow-up was 47 months (2-133)...
July 2016: International Journal of Hematology
Michael Benzaquen, Pauline Belenotti, Dan Lebowitz, Michel Drancourt, Jacques Serratrice
We present a remarkable case of primary cutaneous nocardiosis with pulmonary dissemination due to Nocardia takedensis in a 76-year-old man suffering from marginal zone lymphoma and hypogammaglobulinaemia. We also discuss an alternative treatment to trimethoprim-sulfamethoxazole, which could be contraindicated due to haematological and cutaneous toxicities. This case report is of interest due to the emergence of cutaneous nocardiosis in dermatology.
March 22, 2016: Australasian Journal of Dermatology
K Calvo Campoverde, E Gean, M Piquer Gibert, L Martinez Valdez, A Deyà-Martínez, M Rojas Volquez, A Esteve-Sole, M Juan, A M Plaza, L Alsina
BACKGROUND: Primary immunodeficiencies (PID) represent a heterogeneous group of genetic disorders characterised by poor or absent function in one or more components of the immune system. Humoral or antibody immunodeficiencies are the most common form of PID, of which common variable immunodeficiency (CVID) is the most frequent symptomatic form. CVID is usually characterised by hypogammaglobulinaemia with poor antibody specificity, and an increased susceptibility to infections, autoimmunity and lymphoproliferation...
May 2016: Allergologia et Immunopathologia
Joris M Van Montfrans, Esther A R Hartman, Kees P J Braun, Eric A M Hennekam, Elisabeth A Hak, Paul J Nederkoorn, Willeke F Westendorp, Robbert G M Bredius, Wouter J W Kollen, Elisabeth H Schölvinck, G Elizabeth Legger, Isabelle Meyts, Adrian Liston, Klaske D Lichtenbelt, Jacques C Giltay, Gijs Van Haaften, Gaby M De Vries Simons, Helen Leavis, Cornelis J G Sanders, Marc B Bierings, Stefan Nierkens, Marielle E Van Gijn
OBJECTIVE: To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations inCECR1 METHODS: We present a case series of nine ADA2-deficient patients with an identical homozygous R169Q mutation. Clinical and diagnostic data were collected and available MRI studies were reviewed. We performed genealogy and haplotype analyses and measured serum ADA2 activity. ADA2 activity values were correlated to clinical symptoms...
May 2016: Rheumatology
Necil Kutukculer, Elif Azarsiz, Neslihan Edeer Karaca, Guzide Aksu, Afig Berdeli
BACKGROUND: Patients with transient hypogammaglobulinaemia of infancy (THI) may have mild infections or be asymptomatic. About 20% of THI patients have very severe and recurrent infections and receive intravenous immunoglobulins (IVIg) for replacement therapy and infection prophylaxis. It is still not clear why some THI patients are severely symptomatic; it has been suggested that there might be additional immunologic or environmental factors or other co-morbidities. OBJECTIVE: As an immunological factor, Fcγ receptor polymorphisms (H/H-131, H/R-131 and R/R-131 for FcγIIa; V/V-158, V/F-158 and F/F-158 for FcγRIIIa; NA1/NA1, NA1/NA2 and NA2/NA2 for FcγRIIIb) were analysed in THI patients who had very severe infections and need hospitalisation (treated with IVIg) (n:18) and in THI patients who were asymptomatic or had mild infections (treated with antibiotics or received no medication) (n:25)...
December 2015: Asian Pacific Journal of Allergy and Immunology
Federico De Angelis, Maria Elena Tosti, Saveria Capria, Eleonora Russo, Gianna Maria D'Elia, Giorgia Annechini, Caterina Stefanizzi, Robin Foà, Alessandro Pulsoni
The occurrence of secondary hypogammaglobulinemia (SH) after chemo-immunotherapy represents a potential side effect in patients with indolent non-Hodgkin lymphomas (iNHL). Few data are available on SH occurring after chemotherapy and/or Rituximab (R). We retrospectively investigated the incidence and the risk factors for SH and infectious complications in patients with iNHL after chemo-immunotherapy. Two hundred and sixty six patients treated between 1993 and 2011 were studied. Patients with a basal hypogammaglobulinemia or a monoclonal component were excluded...
December 2015: Leukemia Research
Wiebke Hellenbrand, Judith Koch, Thomas Harder, Christian Bogdan, Ulrich Heininger, Tobias Tenenbaum, Martin Terhardt, Ulrich Vogel, Ole Wichmann, Rüdiger von Kries
In December 2013 Bexsero® became available in Germany for vaccination against serogroup B meningococci (MenB). In August 2015 the German Standing Committee on Vaccination (STIKO) endorsed a recommendation for use of this vaccine in persons at increased risk of invasive meningococcal disease (IMD). This background paper summarizes the evidence underlying the recommendation. Bexsero® is based on surface protein antigens expressed by about 80% of circulating serogroup B meningococci in Germany. The paper reviews available data on immunogenicity and safety of Bexsero® in healthy children and adolescents; data in persons with underlying illness and on the effectiveness in preventing clinical outcomes are thus far unavailable...
November 2015: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
Pavlína Králíčková, Eva Malá, Doris Vokurková, Ondřej Souček, Irena Krčmová, Zbyněk Hrnčíř
INTRODUCTION: Systemic lupus erythematosus (SLE) is a chronic autoimmune multisystem disease. The aim of our study was to clarify the frequency of decreased serum immunoglobulin levels in SLE patients. There were evaluated 799 results of serum immunoglobulin levels gained from 157 patients fulfilling revised ACR criteria in the retrospective study. RESULTS: The immunoglobulin levels under the normal range were found in 29/157 (18.5 %) patients. The most frequent was isolated reduction of IgG 12/157 (7...
September 2015: Vnitr̆ní Lékar̆ství
M Elgizouli, D M Lowe, C Speckmann, D Schubert, J Hülsdünker, Z Eskandarian, A Dudek, A Schmitt-Graeff, J Wanders, S F Jørgensen, B Fevang, U Salzer, A Nieters, S Burns, B Grimbacher
The gene PIK3CD codes for the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), and is expressed solely in leucocytes. Activating mutations of PIK3CD have been described to cause an autosomal dominant immunodeficiency that shares clinical features with common variable immunodeficiency (CVID). We screened a cohort of 669 molecularly undefined primary immunodeficiency patients for five reported mutations (four gain-of-function mutations in PIK3CD and a loss of function mutation in PIK3R1) using pyrosequencing...
February 2016: Clinical and Experimental Immunology
Fatima Dhalla, Siraj A Misbah
PURPOSE OF REVIEW: Antibody deficiency can occur in the context of primary immune deficiency due to inherited genetic defects or secondary to a variety of causes. This review aims to summarize current data concerning the causes of secondary antibody deficiency and where possible evidence regarding the use of prophylactic replacement immunoglobulin. (Figure is included in full-text article.) RECENT FINDINGS: Advances in immune-mediated therapies ranging from monoclonal antibodies to novel B-cell-targeted therapeutics are responsible for an expansion in the possible iatrogenic causes of antibody deficiency...
December 2015: Current Opinion in Allergy and Clinical Immunology
Md Yuzaiful Md Yusof, Edward M Vital, Maya H Buch
The development of B cell-targeted biologics represents a major advance in the treatment of autoimmune rheumatic diseases. As with other immunosuppressive agents, risk of infection is a key clinical concern. This review summarises safety data from 15 years of experience of rituximab in autoimmune diseases with a particular focus on opportunistic infection and class-specific complications and infection risk. Rarely, cases of progressive multifocal leucoencephalopathy in rituximab-treated patients (5/100 000) have accumulated over time although no proven causal association has yet been shown...
October 2015: Current Rheumatology Reports
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