Normal transferrin glycosylation does not rule out severe ALG1 deficiency
JIMD Reports, Volume 65, Issue 3, Page 135-143, May 2024.Abstract ALG1‐CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N‐acetylglucosamine (GlcNAc2)‐pyrophosphate (PP)‐dolichol to the growing oligosaccharide chain, resulting in impaired N‐glycosylation of proteins. N‐glycosylation has a key role in functionality, stability, and half‐life of most
Inez Bosnyak +4 more
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Btk Mutations Selectively Regulate Btk Expression And Upregulate Monocyte Xbp1 Mrna In Xla Patients. [PDF]
, 2016 Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (
Abramczuk, Beatriz M +4 more
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Frontiers in Immunology, 2018 Patients with primary immunoglobulin deficiency have lower immunoglobulin levels or decreased immunoglobulin function, which makes these patients more susceptible to bacterial infection.
Jeroen D. Langereis +7 more
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Involvement of Bruton's tyrosine kinase in FcepsilonRI-dependent mast cell degranulation and cytokine production. [PDF]
, 1998 We investigated the role of Bruton's tyrosine kinase (Btk) in FcepsilonRI-dependent activation of mouse mast cells, using xid and btk null mutant mice.
Alt, FW +16 more
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Primary B-Cell Deficiencies Reveal a Link between Human IL-17-Producing CD4 T-Cell Homeostasis and B-Cell Differentiation [PDF]
, 2011 IL-17 is a pro-inflammatory cytokine implicated in autoimmune and inflammatory conditions. The development/survival of IL-17-producing CD4 T cells (Th17) share critical cues with B-cell differentiation and the circulating follicular T helper subset was ...
A Doreau +58 more
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A clinical case of autosomal recessive agammaglobulinemia with B-cell deficiency
Аллергология и Иммунология в ПедиатрииBackground. Primary agammaglobulinemia is the result of specific changes in B-cells that lead to low antibody production. A preliminary diagnosis is established if there is a history of frequent bacterial infections (otitis media, sinusitis, skin ...
E. V. Negodnova +4 more
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Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia [PDF]
BACKGROUND: Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only eight documented cases in the literature.
Akgül, Gülfirde +29 more
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X-linked agammaglobulinemia - first case with bruton tyrosine kinase mutation from Pakistan [PDF]
, 2017 X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections.
Qamar, Farah Naz +2 more
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Comparative Study of Bone Marrow and Blood B Cells in Infantile and Acquired Agammaglobulinemia [PDF]
, 1973 Nabih I. Abdou +3 more
openalex +1 more source
Mutations in topoisomerase IIβ result in a B cell immunodeficiency. [PDF]
, 2019 B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in ...
Austin, Caroline A +22 more
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