An updated review on phenocopies of primary immunodeficiency diseases

Primary immunodeficiency diseases (PIDs) refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections, autoimmunity and increased risk of malignancies. These group of disorders present with clinical manifestations similar to PIDs with known genetic de...

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Bibliographic Details
Published inGenes & diseases Vol. 7; no. 1; pp. 12 - 25
Main Authors Singh, Ankita, Jindal, Ankur K., Joshi, Vibhu, Anjani, Gummadi, Rawat, Amit
Format Journal Article
LanguageEnglish
Published China Elsevier B.V 01.03.2020
Chongqing Medical University
KeAi Communications Co., Ltd
Subjects
Anti-cytokine antibodies
Phenocopies
Primary immunodeficiency diseases
Somatic mutations
Primary immunodeficiency diseases
Phenocopies
Anti-cytokine antibodies
Somatic mutations
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Summary:Primary immunodeficiency diseases (PIDs) refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections, autoimmunity and increased risk of malignancies. These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as “Phenocopies of PIDs”. These diseases have been further subdivided into those associated with somatic mutations and those associated with presence of auto-antibodies against various cytokines. In this review, we provide an update on clinical manifestations, diagnosis and management of these diseases.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ObjectType-Review-1
ISSN:2352-3042
2352-4820
2352-3042
DOI:10.1016/j.gendis.2019.09.007