Results 41 to 50 of about 22,161 (138)

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs

The Journal of Clinical Investigation, 2023
Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
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Griscelli syndrome type 2: Rare 3 cases from Iraq

Iraqi Journal of Hematology
Griscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978.
Mouroge Hashim AL Ani, Farah Samer Yahya
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Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity

Abstract Background Accurate interpretation of genetic variants requires a quantitative estimate of how likely a variant is to contribute to disease, accounting for both observed and unobserved causal alleles across different inheritance modes ...
Lawless, Dylan, Boutry, Simon, Saadat, Ali, Soomann, Maarja, Trück, Johannes, Froese, D. Sean, Fellay, Jacques, Savic, Sinisa, Schlapbach, Luregn J., Lawless, Dylan   +9 more
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Shprintzen-Goldberg syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
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“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
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Clinical standards and interpretation of gene sequence variants in human Mendelian disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.07 ...
Bei-sha TANG, Sheng ZENG, Kai LI
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Strategies and problems of genetic diagnosis for neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation ...
Xun-hua LI, Ding-bang CHEN, Chao WU
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Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea [PDF]

Diabetes & Metabolism Journal
Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity.
Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak   +6 more
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Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant

Molecular and Cellular Pediatrics
Background AIFM1 encodes the X-linked oxidoreductase ‘apoptosis-inducing factor 1, mitochondrial’ that mediates caspase-independent programmed cell death and is involved in redox metabolism. To date, cardiac involvement has been reported in four patients
Christoph Sandmann, Swathi Gudapati, Johannes A. Mayr, Rami Abou Jamra, Alexander Kovacevic, Steffen Syrbe   +5 more
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Respuesta inmune por anticuerpos en niños de hasta cinco años con enfermedades genéticas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2020
Fundamento: la valoración inmunológica forma parte del tratamiento integral a los pacientes con enfermedades genéticas. Las deficiencias de anticuerpos representan las alteraciones inmunológicas más frecuentes.Objetivo: describir la respuesta de ...
Enelis Reyes-Reyes, Nora María Orive-Rodríguez, Lisset del Carmen Romero-Portelles, Maidelina Cardoso-Paredes   +3 more
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