Isolated Congenital Asplenia in an Asymptomatic Patient: A Very Rare Diagnosis [PDF]
European Journal of Case Reports in Internal Medicine, 2020 Isolated congenital asplenia is a rare condition that mostly manifests in the early years, usually due to fatal systemic infections. In this paper, however, we present a case of a 36-year-old asymptomatic patient who was referred for suspected ...
Sofia Dinis Ferreira +5 more
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Case report: Single-cell mapping of peripheral blood mononuclear cells from a patient with both Crohn’s disease and isolated congenital asplenia [PDF]
Frontiers in Immunology, 2022 Crohn’s disease (CD), as one of the principal form of inflammatory bowel disease (IBD), is characterized by the chronic and recurring inflammatory conditions in the intestine resulting from the over-activation of intestinal immunity.
Dan Pu +5 more
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Isolated Congenital Asplenia: An Overlooked Cause of Thrombocytosis [PDF]
American Journal of Hematology, 2022 [Image: see text]
Bertrand Boisson +2 more
exaly +5 more sources
Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review [PDF]
BMC Infectious Diseases, 2017 Background Isolated congenital asplenia (ICA) is a rare and life-threatening condition that predisposes patients to severe bacterial infections. Most of the reported cases are familial and the mode of inheritance is usually autosomal dominant.
Shigeo Iijima
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Ribosomal Protein SA Haploinsufficiency in Humans With Isolated Congenital Asplenia [PDF]
Science, 2013 Spleen Knockout Explained Isolated congenital asplenia (ICA) is a rare disorder where patients are born without a spleen and are at increased risk of bacterial infection but have no other developmental abnormalities. Through sequence analysis of familial and sporadic cases,
Laurent Abel +2 more
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Ultrastructural and morphometric analysis of enlarged platelets in congenital isolated asplenia [PDF]
Vojnosanitetski Pregled, 2019 Introduction. Congenital asplenia is an extremely rare condition that can be separate entity due to a specific defect of spleen development or may occur in the context of a malformation syndrome.
Marković Olivera +8 more
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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. [PDF]
Proc Natl Acad Sci U S A, 2018 Abstract Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA , encoding ribosomal protein SA, caused ICA by ...
Bolze A +39 more
europepmc +8 more sources
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus. [PDF]
Development, 2018 ABSTRACT A growing number of tissue-specific inherited disorders are associated with impaired ribosome production, despite the universal requirement for ribosome function. Recently, mutations in RPSA, a protein component of the small ribosomal subunit, were discovered to underlie approximately half of all isolated congenital asplenia ...
Griffin JN +8 more
europepmc +5 more sources
Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Molecular Cytogenetics, 2021 Background Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen.
Aleksandra Oszer +4 more
doaj +1 more source
Clinical implications of congenital interruption of inferior vena cava
Journal of the Formosan Medical Association, 2022 Background/purpose: Inferior vena cava (IVC) interruption is rare and can be detected through prenatal or postnatal imaging. It usually occurs in patients with heterotaxy syndrome with bilateral left-sidedness (left isomerism or polysplenia syndrome ...
Shyh-Jye Chen, Mei-Hwan Wu, Jou-Kou Wang
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