IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation [PDF]
, 2018 Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists.
Burg, M. (Mirjam) van der +6 more
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A novel gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia [PDF]
Korean Journal of Pediatrics, 2016 X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from ...
Jeongeun Lee +8 more
doaj +1 more source
Journal of Behçet Uz Children's Hospital, 2023 Objective: As a primary immunodeficiency X-linked agammaglobulinemia (XLA) that develops due to Bruton tyrosine kinase signal transduction protein deficiency which progresses with antibody deficiency was firstly described by an American pediatrician ...
Ezgi Balkarlı +6 more
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Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report
Immunity, Inflammation and Disease, 2023 Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan +3 more
doaj +1 more source
Subcutaneous IgG Replacement Therapy by Push in 32 Patients with Primary Immunodeficiency Diseases in Argentine [PDF]
, 2014 Introduction: Regular replacement with immunoglobulin infusions is the mainstay of treatment in the majority of primary immunodeficiencies. Several studies showed that Subcutaneous Immunoglobulin (SCIG) has similar efficacy to Intravenous Immunoglobulin (
Bezrodnik, Liliana +6 more
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Medicine, 1985 We have defined the clinical presentation and course of X-linked agammaglobulinemia (X-LA) by means of a multi-center retrospective survey of 96 patients. Infections were the most common presenting feature of patients with X-LA. The most frequent infections involved the upper respiratory tract (75%), lower respiratory tract (65%), gastrointestinal ...
H M, Lederman, J A, Winkelstein
openaire +2 more sources
Quality of life of X-linked agammaglobulinemia patients in the United KingdomQuality of life of X-linked agammaglobulinemia patients in the United Kingdom [PDF]
Journal of Human ImmunityAssessment of UK XLA patients reveals that bronchiectasis, present in the majority of adults, is strongly associated with diminished quality of life.
Ben Shillitoe +15 more
doaj +1 more source
Single cell imaging of Bruton's Tyrosine Kinase using an irreversible inhibitor [PDF]
, 2014 A number of Bruton's tyrosine kinase (BTK) inhibitors are currently in development, yet it has been difficult to visualize BTK expression and pharmacological inhibition in vivo in real time.
Kim, Eunha +4 more
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Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association
Case Reports in Pediatrics, 2014 Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin.
Vasco Lavrador +6 more
doaj +1 more source
Prolonged Excretion of Poliovirus among Individuals with Primary Immunodeficiency Disorder: An Analysis of the World Health Organization Registry. [PDF]
, 2017 Individuals with primary immunodeficiency disorder may excrete poliovirus for extended periods and will constitute the only remaining reservoir of virus after eradication and withdrawal of oral poliovirus vaccine.
Dooling, Kathleen +8 more
core +2 more sources