FNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency. [PDF]
Roncareggi S, Iritani BM, Saettini F.
europepmc +1 more source
Zebrafish: A Relevant Genetic Model for Human Primary Immunodeficiency (PID) Disorders? [PDF]
Basheer F+3 more
europepmc +1 more source
Development of a Neutralizing Antibody Response during Acute Primary Human Immunodeficiency Virus Type 1 Infection and the Emergence of Antigenic Variants [PDF]
Julie Lewis+5 more
openalex +1 more source
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses+21 more
wiley +1 more source
Spectrum of different categories of Primary Immunodeficiency Disorders diagnosed at Children Hospital. [PDF]
Iftikhar A+3 more
europepmc +1 more source
Transition practice for primary immunodeficiency diseases in Southeast Asia: a regional survey. [PDF]
Chan CM+19 more
europepmc +1 more source
Oral manifestations and craniofacial morphology in a case of primary immunodeficiency syndrome.
Michio Kubota+3 more
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Cerebral Small Vessel Disease in Older Adults With Olfactory Dysfunction
ABSTRACT Background Poor vascular health has been associated with age‐related declines in sensory functions, including olfaction. The current study was designed to test the hypothesis that cerebral small vessel disease underlies poor olfactory function due to structural declines in brain regions that support olfaction.
Mark A. Eckert+3 more
wiley +1 more source
Evaluation of the effect of the COVID-19 pandemic on depression, anxiety and psychological resilience in patients with primary immunodeficiency. [PDF]
Muştucu A+4 more
europepmc +1 more source
We successfully constructed CAST/EiJ mice models infected with low‐dose vaccinia virus (VACV‐L), high‐dose VACV (VACV‐H), and mpox virus (MPXV), demonstrating that VACV‐L and MPXV infections induced splenomegaly in mice, and VACV‐H infection caused mortality in mice.
Yongzhi Hou+9 more
wiley +1 more source