The Evolving Landscape of Primary Immunodeficiencies

Gennery, Andrew R.

doi:10.1007/s10875-016-0273-6

Cited by 8 publications

(3 citation statements)

References 6 publications

(5 reference statements)

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“…Moreover, the clinical presentation of mutations in known PID genes varies due to the type of mutation (missense, nonsense, insertion/deletion), the protein domain involved and the presence of modifying genes or environmental factors. Recent reports on atypical manifestations of known primary immunodefciencies have revealed a role for molecular diagnosis in defining a new phenotype for a known monogenic disorder [26].…”

Section: Clinical Concept Of Molecular Diagnosis Of Primary Antibody mentioning

confidence: 99%

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

Abolhassani

Aghamohammadi

Fang

et al. 2019

Genetics in Medicine

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Section: Clinical Concept Of Molecular Diagnosis Of Primary Antibody mentioning

confidence: 99%

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

Abolhassani

Aghamohammadi

Fang

et al. 2019

Genetics in Medicine

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“…Several new diseases and novel mutations have been identified during the last 20 years so that the number of genetically defined PIDs exceeds 300 [2]. Recently defined genetic defects and clinical presentations reveal that PIDs not only present with recurrent infections but also lymphoproliferation, autoimmunity, allergy, and malignancies [3].…”

Section: Introductionmentioning

confidence: 99%

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

et al. 2017

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“…Известны редкие мутации: наследственный дефект рецептора UNC93B1, предрасполагающий к разви-тию энцефалита, вызванного ВПГ. При условии от-сутствия контакта с ВПГ носители мутаций могут длительное время или даже всю жизнь оставаться здоровыми [10].…”

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Differential Diagnosis of Nervous System Demyelinative Diseases in Children: Clinical Case of X-Associated Adrenoleucodystrophy

Скрипченко¹,

Скрипченко²,

Aksenova³

et al. 2017

Ross. vestn. perinatol. pediatr.

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81-87. DOI: 10.21508/102781-87. DOI: 10.21508/ -4065-2017 Last years in children we observe high frequency of diseases, associated with focal central nervous system damage by infectious, autoimmune and congenital process. Very often the process occurs in children of early age as a result of recurrent and congenital (chronical) infections. Differential diagnosis of demyelinative central nervous system disease can be difficult, so we report about the case of progredient X-associated adrenoleucodystrophy in 4-year-old child, case was verified genetically. We suppose differential diagnostics with geneticallyassociated exchange disorders (and myelinization disorders) in all cases of progredient disease with lose of skills and abilities, convulsive syndrome progression on the background trigger somatic or infectious pathology, progressive diffuse brain demyelination and increasing of atrophic processes without inflammatory signs in cerebrospinal fluid, differential diagnosis with genetically determined disorders of metabolism in children of all age groups. We also insist on a therapy while making differential diagnosis. We suggest the diagnosis for the therapy start is encephalitis or congenital central nervous system infection. In such cases we can start causal therapy (antiviral or antibacterial), antiinflamatory, antioxidant therapy, metabolical therapy, respiratory support to make the situation stable.Key words: children, nervous system demyelinative diseases, encephalitis, Х-associated adrenoleucodystrophy.

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The Evolving Landscape of Primary Immunodeficiencies

Cited by 8 publications

References 6 publications

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

Differential Diagnosis of Nervous System Demyelinative Diseases in Children: Clinical Case of X-Associated Adrenoleucodystrophy

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