A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report

Authors: Bandar Al-Saud, Huda Alajlan, Hibah Alruwaili, Latifa Almoaibed, Amer Al-Mazrou, Hazem Ghebeh, Monther Al-Alwan, Anas M. Alazami

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: primary immunodeficiency, lymphopenia, NGS, SARAH domain, case report, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1329610/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/33220447d3c24bbabe14445399aba4dc

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

Authors: Anas M. Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al-Saud, Huda Alajlan, Dorota Monies, Zeeshan Shah, Mohamed Abouelhoda, Rand Arnaout, Hasan Al-Dhekri, Nouf S. Al-Numair, Hazem Ghebeh, Farrukh Sheikh, Hamoud Al-Mousa

Source: Frontiers in Immunology, Vol 9 (2018)

Subject Terms: CARMIL2, immunodeficiency, whole exome sequencing, autosomal recessive, RLTPR, dermatitis, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fimmu.2018.00203/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/e7cf1774ab76495abacdfa3118ef3f8a

Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

Authors: Hamoud Al-Mousa, Bandar Al-Saud

Source: Frontiers in Immunology, Vol 8 (2017)

Subject Terms: immunodeficiency, Middle East, North Africa, consanguinity, primary immunodeficiency, SCID, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fimmu.2017.00678/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/6116daa83db64fc48ff3523fccfc00f5

Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery

Authors: Minnie Jacob, Xinyun Gu, Xian Luo, Hamoud Al-Mousa, Rand Arnaout, Bandar Al-Saud, Andreas L. Lopata, Liang Li, Majed Dasouki, Anas M. Abdel Rahman

Source: Metabolites, Vol 9, Iss 11, p 274 (2019)

Subject Terms: 3-hydroxyanthranilic acid, dansylation, dedicator of cytokinesis, hypotaurine, liquid chromatography-mass spectrometry, metabolomics, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-1989/9/11/274; https://doaj.org/toc/2218-1989

Access URL: https://doaj.org/article/5e633c0178714e0296ccb53a3a93a4dd