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Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +4 more sources

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon

Frontiers in Genetics, 2022
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon.
Doaa O. Salman, Rami Mahfouz, Elio R. Bitar, Jinane Samaha, Jinane Samaha, Pascale E. Karam, Pascale E. Karam   +6 more
doaj   +3 more sources

Elevated IgE Levels—An Allergy or an Underlying Inborn Error of Immunity in Children with Recurrent Infections?

Antibodies, 2023
Elevated immunoglobulin E (IgE) is a hallmark of allergic diseases. However, high IgE levels also occur in a number of other infectious and noninfectious diseases.
Polina Kostova, Vera Papochieva, Dimitrinka Miteva, Bilyana Georgieva, Sirma Mileva, Martin Shahid, Tsvetelin Lukanov, Guergana Petrova   +7 more
doaj   +2 more sources

Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic featuresGenomic evaluation of adult IEI in rheumatology [PDF]

Journal of Human Immunity
Baba et al. demonstrate the utility of multidisciplinary genetic evaluation for identifying inborn errors of immunity in adult rheumatology practice. They establish a workflow that improves diagnostic precision and management for patients with atypical ...
Hiroyuki Baba, Tadashi Hosoya, Taiki Yamaguchi, Takuji Itakura, Hirokazu Sasaki, Natsuka Umezawa, Tetsuya Saito, Naoki Kimura, Ryuji Koike, Masayuki Yoshida, Masaki Shimizu, Hirokazu Kanegane, Shinsuke Yasuda   +12 more
doaj   +2 more sources

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report

Italian Journal of Pediatrics, 2022
Background Albright’s hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene is maternally inherited or to ...
Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou   +4 more
doaj   +1 more source

Emphasized the diagnosis and therapy of curative neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj   +1 more source

Rare genetic causes of meningitis and encephalitis [PDF]

Encephalitis, 2022
Differential diagnosis of meningitis and encephalitis is often very challenging because it cannot be determined based on symptoms, and the diseases have various causes.
Jangsup Moon
doaj   +1 more source

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +1 more source

Syndrome in Question [PDF]

Anais Brasileiros de Dermatologia, 2015
Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome.
Juliano Peruzzo, Fernanda Luca Nazar, Mariana Quirino Tubone, Gabriela Fortes Escobar, Tania Ferreira Cestari   +4 more
doaj   +1 more source

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

Frontiers in Neurology, 2020
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
Juan Darío Ortigoza-Escobar
doaj   +1 more source