Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Rawia Albar"'
Publikováno v:
Cureus
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either SKIV2L or TTC37 genes can cause the dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bc6ea1639ae6cdee8a727aa9c56a86b
http://europepmc.org/articles/PMC8654094
http://europepmc.org/articles/PMC8654094
Autor:
Enad F. Alsulimani, Abdullah Alhuzali, Rawia Albar, Saif Aljehani, Khalid A. Alsalmi, Abdulrahman Alnamlah
Publikováno v:
Cureus
Natural killer cell deficiency (NKD) occurs when decreased levels of such cells lead to major immunological deficiency in the patient. NK cells participate in tumor cell surveillance, viral infections, and immunoregulation in the body. We report a ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e7a0aacc347109ce4cbba2865c4ba0c
http://europepmc.org/articles/PMC8643616
http://europepmc.org/articles/PMC8643616
Publikováno v:
International Journal of Medicine in Developing Countries. :407-409
Background: Lymphatic malformations (LM) consist of fluid-filled cystic structures, which are formed due to failure of lymphatic vessels to connect with normal drainage pathways. Treatment is mainly aimed at the reduction of swelling and prevention o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68bd33fd2f11d3013a0e43c83ee8b613
https://doi.org/10.24911/ijmdc.51-1606676117
https://doi.org/10.24911/ijmdc.51-1606676117
Publikováno v:
The Egyptian Journal of Hospital Medicine. 81:1967-1969
Background: Purine nucleoside phosphorylase (PNP) deficiency is a rare genetic disease that results in combined immunodeficiency. Its inheritance is autosomal recessive and affects the purine metabolic pathway. There is a profound effect on T-cells a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c2db61a34a31acc5bda8a16c623e27b
https://doi.org/10.21608/ejhm.2020.123480
https://doi.org/10.21608/ejhm.2020.123480
Publikováno v:
Open Access Macedonian Journal of Medical Sciences, Vol 7, Iss 3 (2019)
Open Access Macedonian Journal of Medical Sciences; Vol 7 No 3 (2019): Feb 15 (OAMJMS); 347-351
Open Access Macedonian Journal of Medical Sciences
Open Access Macedonian Journal of Medical Sciences; Vol 7 No 3 (2019): Feb 15 (OAMJMS); 347-351
Open Access Macedonian Journal of Medical Sciences
BACKGROUND: Asthma is a chronic inflammatory disease of the airways that results from complex interactions between multiple environmental and genetic influences. In recent years, studies have observed an increase in caesarean section rates, and have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be6630157ab41f2e355e8b7d897e5753
https://doi.org/10.3889/oamjms.2019.085
https://doi.org/10.3889/oamjms.2019.085
Publikováno v:
The Egyptian Journal of Hospital Medicine. 70:1742-1744
Brucellosis is a zoonotic disease that can affect multiple organs and tissues in the human body with various clinical presentations; however the thyroid gland is rarely involved. There are many species of Brucella, but only a few can cause symptomati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0e4609c8c6f9d4ae813a8070be4ef34
https://doi.org/10.12816/0044745
https://doi.org/10.12816/0044745
Publikováno v:
Cureus
Varicella-zoster virus (VZV; human herpesvirus 3) is a herpesvirus that causes infection in humans. The reactivation of latent VZV manifests as herpes zoster or shingles. In immunocompetent children, reactivation is rare, as increasing age is the mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c2d72bb58a301dcd770ea9ab82c489
https://doi.org/10.7759/cureus.5194
https://doi.org/10.7759/cureus.5194
Publikováno v:
BMJ Case Reports
Severe combined immunodeficiency (SCID) is an extremely rare disease caused by a disruption in the forkhead box N1 (FOXN1) gene, with an incidence of FOXN1 gene. The variant was confirmed with Sanger sequencing. Management of EBV infection and lympho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ae7fbe4f63e8c2ac8d9fa88fcd56f9f
https://pubmed.ncbi.nlm.nih.gov/31151968
https://pubmed.ncbi.nlm.nih.gov/31151968