keyword
MENU ▼
Read by QxMD icon Read
search

Hypogammaglobulinemia

keyword
https://www.readbyqxmd.com/read/28729231/cernunnos-deficiency-associated-with-bcg-adenitis-and-autoimmunity-first-case-from-the-national-iranian-registry-and-review-of-the-literature
#1
Reza Yazdani, Hassan Abolhassani, Javad Tafaroji, Gholamreza Azizi, Raif S Geha, Asghar Aghamohammadi
Non-homologous end-joining (NHEJ) is a pathway that repairs double-strand breaks (DSB) in DNA and plays a vital role in V(D)J recombination of immunoglobulin genes. Cernunnos is a DNA repair factor that is involved in nonhomologous end-joining (NHEJ) process. Impairment in Cernunnos leads to a genetic disease characterized by neural disorders, immunodeficiency and increased radiosensitivity. We herein describe a severe combined immunodeficiency (SCID) patient with T- B+ phenotype who had a mutation in Cernunnos gene and manifested recurrent infections, microcephaly and growth retardation with hypogammaglobulinemia...
July 17, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28722362/-transient-hypogammaglobulinemia-of-infancy
#2
Felicitas Bellutti Enders, Francesca Conti, Fabio Candotti, Federica Angelini
Transient hypogammaglobulinemia of infancy is characterized as a reduction of one or more classes of immunoglobulins with a response to vaccines and normal subpopulations of lymphocytes B presenting in the first years of life. The diagnosis is made a posteriori, once the levels of immunoglobulins are normalized, in general between 2 and 4 years of age. Clinical presentation varies : the child may be either asymptomatic or present with recurrent infections, atopy and / or auto-immunity. There are no clinical or immunological features that distinguish this condition from a common variable immunodeficiency (CVID)...
April 5, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28721392/the-response-to-typhi-vi-vaccination-is-compromised-in-individuals-with-primary-immunodeficiency
#3
Jeevani Kumarage, Suranjith L Seneviratne, Vijitha Senaratne, Amitha Fernando, Kirthi Gunasekera, Bandu Gunasena, Padmalal Gurugama, Sudath Peiris, Antony R Parker, Stephen Harding, Nilhan Rajiva de Silva
Measurement of an individuals ability to respond to polysaccharide antigens is a crucial test to determine adaptive immunity. Currently the response to Pneumovax(®) is utilized but with the success of Prevnar(®), measurement of the response to Pneumovax may be challenging. The aim of the study was to assess the response to Typhi Vi vaccination in both children and adult control groups and patients with primary immunodeficiency (PID). In the control groups, >95% of the individuals had pre Typhi Vi vaccination concentrations <100 U/mL and there was significant increase in concentration post Typhi Vi vaccination (p<0...
June 2017: Heliyon
https://www.readbyqxmd.com/read/28716658/stool-antigen-immunodetection-for-diagnosis-of-giardia-duodenalis-infection-in-human-subjects-with-hiv-and-cancer
#4
Maryam Nooshadokht, Behjat Kalantari-Khandani, Iraj Sharifi, Hossein Kamyabi, Namal P M Liyanage, Laurel A Lagenaur, Martin F Kagnoff, Steven M Singer, Zahra Babaei, Shahram Solaymani-Mohammadi
Human infection with the protozoan parasite Giardia duodenalis is one the most common parasitic diseases worldwide. Higher incidence rates of giardiasis have been reported from human subjects with multiple debilitating chronic conditions, including hypogammaglobulinemia and common variable immunodeficiency (CVID). In the current study, stool specimens were collected from 199 individuals diagnosed with HIV or cancer and immunocompetent subjects. The sensitivity of microscopy-based detection on fresh stool preparations, trichrome staining and stool antigen immunodetection for the diagnosis of G...
July 14, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/28682152/natural-igm-antibodies-in-the-immune-defence-against-neoehrlichiosis
#5
Christine Wennerås, David Goldblatt, Marta Zancolli, Mattias Mattsson, Linda Wass, Sohvi Hörkkö, Anders Rosén
BACKGROUND: Neoehrlichiosis is an infectious disease caused by the tick-borne bacterium "Candidatus Neoehrlichia mikurensis". Splenectomy and rituximab therapies are risk factors for severe neoehrlichiosis. Our aim was to examine if neoehrlichiosis patients had low levels of natural IgM antibodies and/or were hypogammaglobulinemic, and if such deficiencies were associated with asplenia and vascular complications. METHODS: Neoehrlichiosis patients (n = 9) and control subjects (n = 10) were investigated for serum levels of IgG, IgA, and IgM, and for levels of natural IgM antibodies to pneumococcal polysaccharides (6B, 14), and to the malondialdehyde acetaldehyde epitope of oxidized LDL...
July 6, 2017: Infectious Diseases
https://www.readbyqxmd.com/read/28674683/infusion-of-sibling-marrow-in-a-patient-with-purine-nucleoside-phosphorylase-deficiency-leads-to-split-mixed-donor-chimerism-and-normal-immunity
#6
Laura Yeates, Mary A Slatter, Andrew R Gennery
Purine nucleoside phosphorylase (PNP) deficiency, a rare autosomal recessive metabolic disease causes combined immunodeficiency and developmental delay, hypotonia, and spasticity. Patients present with recurrent infections associated with T-lymphocytopenia, characteristically presenting later than patients with classical severe combined immunodeficiency (SCID). PNP, with adenosine deaminase (ADA), is part of the purine salvage pathway. The only curative therapy is hematopoietic stem cell transplantation. Myeloablative conditioning is recommended to prevent rejection caused by residual immune function...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28658732/-good-s-syndrome-report-of-case
#7
Diana Andrea Herrera-Sánchez, José Israel León-Pedroza, María Eugenia Vargas-Camaño, María Isabel Castrejón-Vázquez
BACKGROUND: Good's syndrome is an association of thymoma and immunodeficiency. The symptoms are recurrent sinopulmonary infections in addition to the compressive side of thymoma. A laboratory finding is notable for the absence or decrease of B lymphocytes, hypogammaglobulinemia, inversion ratio CD4/CD8 and abnormal proliferative response to mitogens. CASE REPORT: Female, 49-year-old started five months earlier with lower limb edema, postprandial vomiting, dysphagia, chronic diarrhea and weight loss...
April 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28658731/-angioedema-as-initial-manifestation-of-hypogammaglobulinemia
#8
Eunice López-Rocha, Patricia O'Farril-Romanillos, Saraid Cerda-Reyes, Edgar A Medina-Torres, Sara E Espinosa-Padilla, José G Huerta-López, Lizbeth Blancas-Galicia
Common variable immunodeficiency is characterized by hypogammaglobulinemia and the inability to respond to vaccines. Patients mostly manifest infections, however only less than 5 % have pathological conditions as autoimmunity, granulomatous inflammation, and splenomegaly or lymphoproliferative disease among others, without showing infections. We report the case of a woman who debuted with localized cutaneous affection, facial angioedema, without other early symptoms. After diagnosis splenomegaly and bronchiectasis were documented...
April 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28652580/immunological-phenotype-of-the-murine-lrba-knockout
#9
Laura Gámez-Díaz, Julika Neumann, Fiona Jäger, Michele Proietti, Felicitas Felber, Pauline Soulas-Sprauel, Lisa Perruzza, Fabio Grassi, Tamara Kögl, Peter Aichele, Manfred Kilimann, Bodo Grimbacher, Sophie Jung
Biallelic mutations in the human Lipopolysaccharide Responsive Beige-like Anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized by a broad range of clinical manifestations including autoimmunity, organomegaly, hypogammaglobulinemia and recurrent infections. Considering the phenotypic heterogeneity in patients and the severity of the disease, our aim was to assess the role of LRBA in immune cells and to understand the underlying pathomechanisms through the study of a Lrba knockout (Lrba(-/-)) mouse model...
June 27, 2017: Immunology and Cell Biology
https://www.readbyqxmd.com/read/28640123/recurrent-campylobacter-jejuni-bacteremia-in-a-patient-with-hypogammaglobulinemia-a-case-report
#10
Youie Kim, Ju Ae Shin, Seung Beom Han, Bin Cho, Dae Chul Jeong, Jin Han Kang
RATIONALE: Although some cases of recurrent bacteremia due to Campylobacter jejuni have been reported in immunocompromised patients, antibiotic treatment strategies to eradicate C. jejuni and prevent recurrent infections in immunocompromised patients have not been established. Authors' experience of such rare cases should be shared for improving patients' outcomes. PATIENT CONCERNS: An 18-year-old boy with hypogammaglobulinemia, who received intravenous immunoglobulin replacement therapy every 3 weeks, was admitted to hospital repeatedly due to recurrent diarrhea and cellulitis of the leg...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639577/characteristics-of-good-s-syndrome-in-china-a-systematic-review
#11
REVIEW
Jin-Pei Dong, Wen Gao, Gui-Gen Teng, Yu Tian, Hua-Hong Wang
BACKGROUND: Good's syndrome (GS) is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4+/CD8+ T-cell ratio and reduced T-cell mitogen proliferative responses. GS is difficult to diagnose preoperatively due to its rarity and lack of typical symptoms, the characteristics of Chinese GS patients are still lacking. This study aimed to systematically review all the clinical, laboratory, and immunologic findings of reported cases of Chinese patients with GS...
July 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28603521/novel-combined-immune-deficiency-and-radiation-sensitivity-blended-phenotype-in-an-adult-with-biallelic-variations-in-zap70-and-rnf168
#12
Ivan K Chinn, Robert P Sanders, Asbjørg Stray-Pedersen, Zeynep H Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Chaim M Roifman, Troy Quigg, James R Lupski, Jordan S Orange, I Celine Hanson
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these "mendelizing" disease traits represent phenotypes caused by single-gene defects, a percentage of patients have blended phenotypes caused by pathogenic variants in multiple genes. We describe an adult patient with susceptibility to bacterial, herpesviral, and fungal infections...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28575178/predominance-of-cd4-t-cells-in-t-cell-histiocyte-rich-large-b-cell-lymphoma-and-identification-of-a-subset-of-patients-with-peripheral-b-cell-lymphopenia
#13
Christian Kunder, Michael J Cascio, Anthony Bakke, Girish Venkataraman, Dennis P O'Malley, Robert S Ohgami
Objectives: T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL) is a morphologic variant of large B-cell lymphoma whose flow cytometry findings are not well characterized. Methods: Nineteen cases with flow cytometric immunophenotyping were identified from the case records of four institutions between 2001 and 2016. Results: In most cases, neoplastic B cells were not detected by flow cytometry. Overall, cases showed a predominance of CD4+ T cells, which in some cases was marked...
June 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28571224/waldmann-s-disease-primary-intestinal-lymphangiectasia-with-atrial-septal-defect
#14
Shrikiran Aroor, Suneel Mundkur, Shravan Kanaparthi, Sandeep Kumar
Waldmann's disease or Primary Intestinal Lymphangiectasia (PIL) is a rare disorder of gastrointestinal tract characterized by dilated lymphatics and widened villi causing leakage of lymph into intestinal lumen. Loss of lymph leads to hypoalbuminemia, hyogammaglobulinemia and lymphopenia. Secondary lymphangiectasia occurs secondary to an elevated lymphatic pressure as in lymphoma, systemic lupus erythematosus, constrictive pericarditis, cardiac surgeries (Fontan's procedure), inflammatory bowel disease and malignancies...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28543378/renal-transplantation-in-patients-with-pre-existing-hypogammaglobulinemia
#15
K P Lund, H Bruunsgaard, H V Marquart, S S Sørensen
Hypogammaglobulinemia is well-characterized as a common phenomenon after kidney transplantation. However, no reports of pre-existing hypogammaglobulinemia from kidney transplantation seem to be available. We have reviewed three patients who developed hypogammaglobulinemia prior to kidney transplantation, and all three were treated successfully with immunoglobulin-replacement therapy before and after kidney transplantation. The kidney grafts were functioning at follow-up 1.5 to 8 years (mean: 3.6 years) after transplantation, and there were no diagnosed episodes of clinical rejections and no severe infection complications post-transplantation...
May 22, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28539185/frequency-of-untreated-hypogammaglobulinemia-in-bronchiectasis
#16
Melanie A Ruffner, Timothy R Aksamit, Byron Thomashow, Radmila Choate, Angela DiMango, Gerard M Turino, Anne E O'Donnell, Margaret M Johnson, Kenneth N Olivier, Kevin Fennelly, Charles L Daley, Kevin L Winthrop, Mark L Metersky, Matthias A Salathe, Michael R Knowles, M Leigh Anne Daniels, Peadar G Noone, Gregory Tino, David E Griffith, Kathleen E Sullivan
No abstract text is available yet for this article.
July 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28532655/homozygous-tcf3-mutation-is-associated-with-severe-hypogammaglobulinemia-and-b-cell-acute-lymphoblastic-leukemia
#17
Meriem Ben-Ali, Jing Yang, Koon Wing Chan, Imen Ben-Mustapha, Najla Mekki, Chaouki Benabdesselem, Fethi Mellouli, Mohamed Bejaoui, WanLing Yang, Lamia Aissaoui, Yu Lung Lau, Mohamed-Ridha Barbouche
The identification of a homozygous TCF3 gene mutation in a patient presenting with severe hypogammaglobulinemia and acute lymphoblastic leukemia supports the crucial role of this transcription factor in normal B-lymphocyte development.
May 19, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28513979/identification-of-a-de-novo-variant-in-chuk-in-a-patient-with-an-eec-aec-syndrome-like-phenotype-and-hypogammaglobulinemia
#18
Kriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, Cécile Boulanger, Bénédicte Brichard, Etienne Sokal, Rolph Pfundt, Tuula Rinne, Ellen van Beusekom, Marjon Bloemen, Gerrit Vriend, Nicole Revencu, Carine E L Carels, Hans van Bokhoven, Huiqing Zhou
The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay...
May 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28512785/clinical-immunological-molecular-analyses-and-outcomes-of-iranian-patients-with-lrba-deficiency-a-longitudinal-study
#19
Gholamreza Azizi, Hassan Abolhassani, Seyed Alireza Mahdaviani, Zahra Chavoshzadeh, Peyman Eshghi, Reza Yazdani, Fatemeh Kiaee, Mohammadreza Shaghaghi, Javad Mohammadi, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity and enteropathy. METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory and molecular data were collected. RESULTS: Hypogammaglobulinemia were reported in 14 (82...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28501028/multicentric-castleman-disease-of-hyaline-vascular-variant-presenting-with-unusual-systemic-manifestations-a-case-report
#20
B M D B Basnayake, A W M Wazil, T Kannangara, N V I Ratnatunga, S Hewamana, A M Ameer
BACKGROUND: Castleman disease is a rare lymphoproliferative disorder presenting with localized or disseminated lymphadenopathy and systemic manifestations. It can be categorized in numerous ways, such as unicentric versus multicentric, histopathological variants (hyaline-vascular, plasma cell, and mixed), or subtypes based on causative viral infections (human immunodeficiency virus, human herpesvirus-8, or Kaposi sarcoma herpesvirus). Presentation ranges from asymptomatic to symptoms involving multiple organs...
May 14, 2017: Journal of Medical Case Reports
keyword
keyword
17404
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"