Genomic band 11.2 of human chromosome 22 harbors well-characterized region-specific low copy repeats (LCRs) which are prone to DNA rearrangements during meiotic crossover through non-allelic homologous recombination [ 1 ]. Deletions or duplications …
verfasst von:
Dharmagat Bhattarai, Daniel E. McGinn, T. Blaine Crowley, Victoria Giunta, Kimberly Gaiser, Elaine H. Zackai, Beverly S. Emanuel, Jennifer Heimall, Soma Jyonouchi, Juhee Lee, Di Sun, Donna M. McDonald-McGinn, Kathleen E. Sullivan
Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic loss-of-function variant of tRNA nucleotidyl transferase 1 (TRNT1) [ 1 ]. TRNT1 is an important enzyme …
verfasst von:
Yan Li, Mengyue Deng, Tongxin Han, Wenxiu Mo, Huawei Mao
Cardiovascular disease (CVD) is the main cause of disability and mortality worldwide with atherosclerosis as the most common underlying pathology [ 1 , 2 ]. The etiology of atherosclerosis is complex but involves several metabolic and inflammatory …
verfasst von:
Samer R. Khan, Virgil A. S. H. Dalm, M. Kamran Ikram, Robin P. Peeters, P. Martin van Hagen, Maryam Kavousi, Layal Chaker
Bacille Calmette-Guérin (BCG)—a live, attenuated strain of Mycobacterium bovis —is the only recommended vaccine by the World Health Organization (WHO) against tuberculosis, and neonates born in areas with high tuberculosis incidences, such as …
Inborn errors of immunity (IEI) are a group of diseases, occurring only in approximately 2–10 per 100,000 people, and it includes more than 450 diseases with varying clinical characteristics [ 1 – 5 ]. Early diagnosis enables prompt therapeutic …
Leukocyte adhesion deficiency-III (LAD-III) is an extremely rare autosomal recessive syndrome caused by mutations in FERMT3, the gene encoding kindlin-3. The genetic alterations in this gene lead to abnormal expression or activity of kindlin-3 in …
verfasst von:
Nezihe Köker, İhsan Deveci, Karin van Leeuwen, Sinan Akbayram, Dirk Roos, Taco W. Kuijpers, Mustafa Yavuz Köker
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare group of inborn errors of immunity (IEI) characterized by selective susceptibility to infections caused by weakly virulent mycobacteria, such as Bacille Calmette-Guérin (BCG) …
verfasst von:
Abderrahmane Errami, Jamila El Baghdadi, Fatima Ailal, Ibtihal Benhsaien, Jalila El Bakkouri, Leila Jeddane, Noureddine Rada, Noufissa Benajiba, Khaoula Mokhantar, Kaoutar Ouazahrou, Sanae Zaidi, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Ahmed Aziz Bousfiha
Patients with inhibitory and neutralizing autoantibodies against IFN-γ (AutoAbs-IFN-γ), as an adult-onset immunodeficiency [ 1 ] or anti-cytokine autoantibody syndrome [ 2 ], present with recurrent and various refractory non-tuberculous …
Pathogenic FOXP3 variants cause immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a progressive autoimmune disease resulting from disruption of the regulatory T cell (Treg) compartment. Assigning pathogenicity to novel …
verfasst von:
Rebecca C. Wyatt, Sven Olek, Elisa De Franco, Bjoern Samans, Kashyap Patel, Jayne Houghton, Steffi Walter, Janika Schulze, Rosa Bacchetta, Andrew T. Hattersley, Sarah E. Flanagan, Matthew B. Johnson
A retrospective case–control study was carried out at two sites: The Regional Immunology Services of Northern Ireland and St. James’s Hospital, Dublin, Republic of Ireland. Local ESID (European Society of Immunodeficiency) registry databases were …
verfasst von:
Vyanka Redenbaugh, Anne Sloan, Jacklyn Sui, John David Edgar, Tanya Coulter
