Se reporta el caso de un niño de 6 años de edad con infecciones respiratorias y digestivas recurrentes desde los 8 meses de edad. El estudio inmunológico reveló marcada disminución de la activación linfocitaria, niveles disminuidos de subclases de IgG2 ...
Vianed Marsán Suárez +5 more
doaj
CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population
The clinical presentation of CD21 deficiency in 2 siblings caused by a novel mutation in the CD21 gene is reported, and the frequency of this mutation in the Danish population is explored.
Thure Mors Haunstrup, MD +7 more
doaj +1 more source
SLy2‐deficiency promotes B‐1 cell immunity and triggers enhanced production of IgM and IgG2 antibodies against pneumococcal vaccine [PDF]
Jennifer Jaufmann +5 more
openalex +1 more source
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
core +1 more source
ABSTRACT Objectives To evaluate the utility of cerebrospinal fluid (CSF) biomarkers—matrix metalloproteinase‐9 (MMP‐9), tissue inhibitor of metalloproteinases‐1 (TIMP‐1), the MMP‐9/TIMP‐1 ratio, and osteopontin (OPN)—as indicators of blood–brain barrier (BBB) integrity and disease activity in people with relapsing–remitting multiple sclerosis (pwMS ...
Ivan Pavlovic +6 more
wiley +1 more source
SOME PATHOGENETIC ASPECTS OF HYPERTHROPHY AND INFLAMMATION OF PHARYNGEAL TONSILS IN CHILDREN
We have measured total levels of alpha-2-macroglobulin (α2-MG), its immune complexes with IgG (α2-MG-IgG), along with IL-6, IL-8, IL-10, TNFα, lactoferrin (LF) and alpha-1-antitrypsin (AT) contents in blood sera of children with verified chronic ...
V. N. Zorina +5 more
doaj +1 more source
PRIMARY CILIARY DYSKINESIA IN ASSOCIATION WITH IGG DEFICIENCY [PDF]
Ramalinga Reddy, Lois A. Nelson
openalex +1 more source
EPSTEIN-BARR-VIRUS ASSOCIATED SYNDROMES IN IMMUNOSUPPRESSED LIVER-TRANSPLANT RECIPIENTS - CLINICAL PROFILE AND RECOGNITION ON ROUTINE ALLOGRAFT BIOPSY [PDF]
The clinical profile and histopathologic changes in needle biopsies of the liver were studied in 10 cases of acute Epstein-Barr virus infection occurring in liver transplant recipients.
DEMETRIS, AJ +3 more
core +1 more source
Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih +40 more
wiley +1 more source
IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. [PDF]
Sara Chaffee +5 more
openalex +1 more source

