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agammaglobulinaemia

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https://www.readbyqxmd.com/read/28851726/disseminated-pseudomonas-aeruginosa-sepsis-as-presenting-diagnosis-of-x-linked-agammaglobulinaemia-in-a-previously-well-16-month-old-child
#1
Naveen Kumar Bhardwaj, Daisy Khera, Neeraj Gupta, Kuldeep Singh
We report a previously healthy 16-month-old child who presented to us with membranous pharyngitis and ecthyma gangrenosum. In this patient, Pseudomonas aeruginosa was isolated from throat swab, cerebrospinal fluid, skin swab, urine, blood and synovial fluid in a single admission. In further workup, this child was diagnosed as a case of X-linked agammaglobulinaemia. The child was treated successfully with antipseudomonal antibiotics for 6 weeks and intravenous immunoglobulin.
August 29, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28729230/x-linked-agammaglobulinaemia-outcomes-in-the-modern-era
#2
REVIEW
Ben Shillitoe, Andrew Gennery
Colonel Ogden Bruton reported X-Linked Agammaglobulinaemia in 1952 and treated the child with replacement immunoglobulin therapy. Over 60years later, the treatment for XLA has largely remained unchanged. Replacement immunoglobulin lacks the isotypes IgA and IgM, leading to concerns that patients continue to experience recurrent sinopulmonary tract infections and be at increased risk of bronchiectasis. There is potential hope of earlier diagnosis with newborn screening, and a potential cure for these patients, in the form of gene therapy...
July 17, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28690850/agammaglobulinaemia-despite-terminal-b-cell-differentiation-in-a-patient-with-a-novel-lrba-mutation
#3
Nashat Al Sukaiti, Khwater AbdelRahman, Jalila AlShekaili, Sumaya Al Oraimi, Aisha Al Sinani, Nasser Al Rahbi, Vicky Cho, Matt Field, Matthew C Cook
Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 diabetes, autoimmune haematological cytopenia, recurrent chest infections and lymphocytic interstitial lung disease. The patient was treated with CTLA4-Ig (abatacept) with good outcome every 2 weeks for a period of 3 months...
May 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28606051/comparison-of-bone-mineral-density-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#4
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Hosein Rafiemanesh, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi, Farzaneh Abbasi, Fatemeh Sayarifard, Mehran Ebrahimi, Javad Tafaroji
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
June 11, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#5
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María Angélica Marinovic
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28000208/when-to-initiate-immunoglobulin-replacement-therapy-igrt-in-antibody-deficiency-a-practical-approach
#6
REVIEW
S Jolles, H Chapel, J Litzman
Primary antibody deficiencies (PAD) constitute the majority of all primary immunodeficiency diseases (PID) and immunoglobulin replacement forms the mainstay of therapy for many patients in this category. Secondary antibody deficiencies (SAD) represent a larger and expanding number of patients resulting from the use of a wide range of immunosuppressive therapies, in particular those targeting B cells, and may also result from renal or gastrointestinal immunoglobulin losses. While there are clear similarities between primary and secondary antibody deficiencies, there are also significant differences...
June 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27692490/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#7
Leticia Yañez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, Maria Angélica Marinovic
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
September 27, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27535475/x-linked-agammaglobulinaemia-xla-presenting-with-neutropenia-and-pseudomonas-aeruginosa-cellulitis
#8
J M MacMahon, M Ni Chroinin, J Hourihane, T R Leahy
No abstract text is available yet for this article.
August 17, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27377098/recurrent-cellulitis-caused-by-helicobacter-cinaedi-in-a-patient-with-x-linked-agammaglobulinaemia
#9
Masayo Sugimoto, Takuya Takeichi, Hideki Muramatsu, Daiei Kojima, Yukari Osada, Michihiro Kono, Seiji Kojima, Masashi Akiyama
No abstract text is available yet for this article.
February 8, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/26183722/higher-cardiovascular-risk-in-common-variable-immunodeficiency-and-x-linked-agammaglobulinaemia-patients
#10
Daniele Gonçalves Vieira, Beatriz Tavares Costa-Carvalho, Sonia Hix, Rosangela da Silva, Milena S G Correia, Roseli Oselka Saccardo Sarni
INTRODUCTION: Common variable immunodeficiency and X-linked agammaglobulinaemia are primary immunodeficiencies classified as antibody deficiencies, and they both result in hypogammaglobulinaemia. OBJECTIVE: Evaluate the lipid profile and other cardiovascular risk biomarkers in CVID and XLA patients. METHODS: In total, 24 patients and 12 healthy controls matched by age and gender were included in the study. We evaluated anthropometric measurements, and seric total cholesterol (TC), high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol (LDL-c), triglycerides (TG), apo A-I, small dense LDL (sdLDL), C-reactive protein (CRP), and tumour necrosis factor alpha (TNF-alpha), myeloperoxidase (MPO), cholesteryl ester transfer protein (CETP), and lecithin cholesterol acyltransferase (LCAT) were assessed...
2015: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/25677480/what-has-happened-in-the-last-50-years-in-immunology
#11
REVIEW
Melanie Wong
Fifty years ago, in 1964, our understanding of the immune system was very rudimentary. Gell and Coombs had just described classes of hypersensitivity reactions, and Bruton had described and commenced immunoglobulin replacement in agammaglobulinaemia. The distinction between T and B cells was not identified and characterised until the 1960s and 1970s. This was followed by increasing recognition of T and B cell collaboration in immune responses and identification of significant immunodeficiencies. CD4 and CD8 T cells were only recognised in the 1970s and 1980s...
February 2015: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/25170474/t-cell-receptor-and-k-deleting-recombination-excision-circles-in-newborn-screening-of-t-and-b-cell-defects-review-of-the-literature-and-future-challenges
#12
REVIEW
Marco Chiarini, Cinzia Zanotti, Federico Serana, Alessandra Sottini, Diego Bertoli, Luigi Caimi, Luisa Imberti
Since its introduction as a public health programme in the United States in the early 1960s, newborn blood screening (NBS) has evolved from the detection of phenylalanine levels on filter paper to the application of DNA-based technologies to identify T-cell lymphopenia in infants with severe combined immunodeficiency. This latter use of NBS has required the development of an assay for T-cell lymphopenia based on the quantification of T-cell receptor excision circles (TRECs) that could be performed on dried blood spots routinely collected from newborn infants...
April 28, 2013: Journal of Public Health Research
https://www.readbyqxmd.com/read/25091287/a-novel-treatment-in-x-linked-agammaglobulinaemia-hyperbaric-oxygen-therapy-in-refractory-chronic-wounds
#13
C L Steele, C Cridge, J D M Edgar
Chronic wounds are a rare complication of X-linked agammaglobulinaemia (XLA). Fastidious organisms such as helicobacter bills have been reported in XLA with chronic wounds but sterile chronic wounds also occur. Hyperbaric Oxygen Therapy has been used in chronic wounds but has not previously been reported in primary antibody deficiencies. We present a case of a chronic wound in a patient with XLA refractory to antimicrobial therapy that made a remarkable recovery following Hyperbaric Oxygen Therapy.
October 2014: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/24992401/the-use-of-infliximab-in-x-linked-agammaglobulinaemia-associated-enteropathy
#14
REVIEW
P T Davey, C J Tan, K Gardiner
Granulomatous small bowel enteropathy is an unusual presentation associated with X-linked agammaglobulinaemia. We present a rare case of this condition that was further complicated by an enterocutaneous fistula and report our experience managing this condition successfully with infliximab, which has not been documented in the literature previously.
July 2014: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/24506305/the-pedpad-study-boys-predominate-in-the-hypogammaglobulinaemia-registry-of-the-esid-online-database
#15
E J H Schatorjé, B Gathmann, R W N M van Hout, E de Vries
Hypogammaglobulinaemias are the most common primary immunodeficiency diseases. This group of diseases is very heterogeneous, and little is known about these diseases in children. In the Pediatric Predominantly Antibody Deficiencies (PedPAD) study, we analysed data from the European Society for Immunodeficiencies (ESID) online database to gain more insight into the characteristics of children with hypogammaglobulinaemia; 46 centres in 18 different countries agreed to participate. Data from 2076 of the 3191 children who were registered at the time of data extraction with a diagnosis of hypogammaglobulinaemia (this excludes agammaglobulinaemia and defects in class-switch recombination) were available for analysis...
June 2014: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/24485939/mortality-and-morbidity-in-patients-with-x-linked-agammaglobulinaemia
#16
H Abolhassani, A Hirbod-Mobarakeh, S Shahinpour, M Panahi, P Mohammadinejad, B Mirminachi, M S Shakari, B Samavat, A Aghamohammadi
BACKGROUND: X-linked agammaglobulinaemia (XLA) is a genetic disorder characterised by a defect in the generation of mature B cells, lack of antibodies production, and susceptibility to recurrent bacterial infections. Understanding of the risk factors responsible for morbidity and mortality in these patients can help in a better management of this disorder. However, there is a lack of specific studies in the literature regarding the morbidity and mortality of XLA patients. This study is designed to evaluate morbidities and mortality and survival rates in Iranian patients with XLA diagnosis during the past 20 years...
January 2015: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/24485938/bronchial-hyperreactivity-in-children-with-antibody-deficiencies
#17
Celal Özcan, Ayşe Metin, Mustafa Erkoçoğlu, Can Naci Kocabas
BACKGROUND: Antibody deficiency comprises a heterogeneous group of disorders characterised by the body's inability to mount an effective antibody response to pathogens. Although it has been reported that asthma and allergic disease are frequent in antibody deficiencies, there are no data that evaluate and compare bronchial hyperreactivity (BHR) in all groups of antibody deficiencies. In this study, we aimed to evaluate and compare the frequency of BHR in patients with different antibody deficiencies...
January 2015: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/24338563/modeling-primary-immunodeficiency-disease-epidemiology-and-its-treatment-to-estimate-latent-therapeutic-demand-for-immunoglobulin
#18
Jeffrey S Stonebraker, Albert Farrugia, Benjamin Gathmann, Jordan S Orange
PURPOSE: Estimating the underlying demand for immunoglobulin (Ig) is important to ensure that adequate provision is made for patients with primary immune deficiency (PID) in the context of the competing demands for Ig and to ensure optimal therapeutic regimens. The concept of latent therapeutic demand (LTD) was used to estimate evidence-based requirements and compared to the actual Ig consumption in different countries. The estimates were performed for common variable immunodeficiency (CVID) and X-linked Agammaglobulinaemia (XLA), the two most commonly studied PIDs using Ig...
February 2014: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/24074005/atypical-x-linked-agammaglobulinaemia-caused-by-a-novel-btk-mutation-in-a-selective-immunoglobulin-m-deficiency-patient
#19
Lee-Moay Lim, Jer-Ming Chang, I-Fang Wang, Wei-Chiao Chang, Daw-Yang Hwang, Hung-Chun Chen
BACKGROUND: X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton's tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosis of XLA can be a challenge in certain patients who have near-normal levels of serum immunoglobulin...
September 27, 2013: BMC Pediatrics
https://www.readbyqxmd.com/read/23964967/-intravenous-and-subcutaneous-immunoglobulin-therapy
#20
Vojtěch Thon
Patients with agammaglobulinaemia and hypogammaglobulinaemia require immunoglobulin G (IgG) replacement therapy to prevent serious infections. Since the 1950s, therapy with human immune globulin products has been the standard of treatment. Currently, the most common routes of administration of IgG replacement therapy are intravenous (IVIG) or subcutaneous (SCIG). The home therapy may improve the quality of life in patients who require lifelong IgG replacement. The -anti-IgA antibody test identifies the patients with the risk of anaphylactoid reactions in IVIG replacement...
July 2013: Epidemiologie, Mikrobiologie, Imunologie
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