A patient with complete IFN-γR1 deficiency and tuberculosis resembling BCG diseaseIFN-γR1 deficiency and Mycobacterium tuberculosis [PDF]
We present a case of a patient with a deleterious variant in IFNGR1 who contracted Mycobacterium tuberculosis. However, the patient presented with clinical manifestations suggestive of BCG infection.
Sara Espinosa-Padilla +7 more
doaj +1 more source
Relationship Between Non-Hodgkin's Lymphoma and Blood Levels of Epstein-Barr Virus in Children in North-Western Tanzania: A Case Control Study. [PDF]
Non-Hodgkin's Lymphomas (NHL) are common in African children, with endemic Burkitt's lymphoma (BL) being the most common subtype. While the role of Epstein-Barr Virus (EBV) in endemic BL is known, no data are available about clinical presentations of NHL
AH Filipovich +44 more
core +3 more sources
Common variable immunodeficiency (CVID) is the most prevalent form of symptomatic primary humoral immunodeficiencies characterized by failure in the final differentiation of B lymphocytes. The majority of CVID cases have no identified genetic defect, and
Zahra Hamidi Esfahani +7 more
doaj +1 more source
Primary Immunodeficiency Diseases in Norway [PDF]
This study represents the first national epidemiological survey of primary immunodeficiency diseases in Norway. Uniform questionnaires were sent out in April 1998 to all hospital departments considered relevant. As of February 1999, a total of 372 patients have been registered, of whom 69 patients are deceased. With a population of 4.45 million people,
A, Stray-Pedersen +2 more
openaire +2 more sources
Immediate Antiretroviral Therapy Decreases Mortality Among Patients With High CD4 Counts in China: A Nationwide, Retrospective Cohort Study. [PDF]
BackgroundClinical trials have demonstrated that immediate initiation of antiretroviral therapy (ART) reduces AIDS-related morbidity and mortality. We tested the hypothesis that initiating ART ≤30 days after human immunodeficiency virus (HIV) diagnosis ...
Brookmeyer, Ron +10 more
core +1 more source
Subjective assessment of sleep quality in adult patients with hereditary angioedema
BackgroundHereditary angioedema (HAE) is a rare disorder characterized by recurrent swelling episodes, including painful abdominal attacks and life-threatening angioedema of the larynx that significantly affects patients’ quality of life, including sleep.
Esra Karabiber +12 more
doaj +1 more source
Primary antiphospholipid syndrome (PAPS) is a life-threatening clotting disorder mediated by pathogenic autoantibodies. Here we dissect the origin of self-reactive B cells in human PAPS using peripheral blood and bone marrow of patients with triple ...
Yannick Dieudonné +23 more
doaj +1 more source
Flow cytometry-based diagnosis of primary immunodeficiency diseases
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly.
Hirokazu Kanegane +13 more
doaj +1 more source
Murine cytomegalovirus genomic material in marrow cells; relation to altered leukocyte counts during sublethal infection of mice [PDF]
To investigate infection of hematopoietic cells by murine cytomegalovirus (MCMV), we used in situ hybridization to detect MCMV genomic material in marrow cells during sublethal infection of three-week-old mice.
Bale, J. F. +4 more
core +1 more source
Stem Cell Transplantation for Primary Immunodeficiency Disease: Experience of a Singapore Hospital
We retrospectively analyzed the outcomes of hematopoietic stem cell transplantation in 7 patients with primary immunodeficiency diseases treated at the National University Hospital, Singapore, over the period from December 1996 to January 2010.
Alison Joanne Lee, MBBS, MRCPCH, MMed +5 more
doaj +1 more source

