Results 121 to 130 of about 18,093 (282)

A clinical case of autosomal recessive agammaglobulinemia with B-cell deficiency

Аллергология и Иммунология в Педиатрии
Background. 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, M. S. Iskandyarova, E. N. Tyagusheva, O. A. Radaeva, G. V. Fominova   +4 more
doaj   +1 more source

Vecchie e nuove Immunodeficienze Primitive: strategie per il sospetto e la diagnosi. [PDF]

, 2011
Viene analizzata l'epidemiologia delle immunodeficienze in Slovenia e Friuli venezia Giulia. Vengono valutati i sintomi di presentazione di immunodeficienza in base all'età di esordio e di diagnosi e gli esami di laboratorio più utili nell'iter ...
Tommasini, Alberto
core   +1 more source

Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature [PDF]

, 2016
Joud Hajjar, Sana Hasan, Lisa R. Forbes, Vagish Hemmige, Jordan S. Orange   +4 more
openalex   +1 more source

Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report

BMC Medical Genetics, 2019
BackgroundX-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations in the Bruton tyrosine kinase (BTK) gene on X chromosome. These mutations disturb B-cell development, decrease immunoglobulin levels, increase
Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan-yi Wang, Wansheng Chen   +7 more
semanticscholar   +1 more source

Limited Innovations After More Than 65 Years of Immunoglobulin Replacement Therapy: Potential of IgA- and IgM-Enriched Formulations to Prevent Bacterial Respiratory Tract Infections

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, Jeroen D. Langereis, Michiel van der Flier, Michiel van der Flier, Michiel van der Flier, Michiel van der Flier, Marien I. de Jonge, Marien I. de Jonge   +7 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, Gilmour, Stuart, iVDPV Working Group, Kew, Olen M, Liao, Yi, Mach, Ondrej, Macklin, Grace, Sutter, Roland W, Takane, Marina   +8 more
core   +2 more sources

Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report [PDF]

, 2022
Ronaldo da Silva Francisco, Guilherme Loss de Morais, Joseane Biso de Carvalho, Cristina dos Santos Ferreira, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto‐Mariz, Zilton Vasconcelos, Ekaterini Goudouris, Ana Tereza Ribeiro de Vasconcelos   +10 more
openalex   +1 more source

FNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency

Current Issues in Molecular Biology
Folliculin-interacting protein 1 (FNIP1) is a key regulator of cellular metabolism and immune homeostasis, integrating nutrient signaling with proteostasis.
Samuele Roncareggi, Brian M. Iritani, Francesco Saettini   +2 more
doaj   +1 more source

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, Filipa Correia, Rita Sampaio, Cristina Cândido, Maria Sameiro-Faria, Laura Marques, Conceição Mota   +6 more
doaj   +1 more source

X-linked agammaglobulinemia

Clinical Immunology and Immunopathology, 1991
X-linked agammaglobulinemia (XLA) patients manifest a very low production of immunoglobulins (Ig) of all classes and plasma cells are virtually absent. The XLA gene plays a crucial role in the transition of pre-B cells to later B cell stages, as hardly any slg-positive B lymphocytes can be detected.
E, Timmers, M, de Weers, F W, Alt, R W, Hendriks, R K, Schuurman   +4 more
openaire   +2 more sources