Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: A case series of Wiskott-Aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literature

•Actin cytoskeletal regulation defects are key effectors in the development of primary immune deficiency.•WASp, CARMIL2, and DOCK8 are regulatory proteins in actin formation that have immune deficiency pathologies.•Peripheral eosinophilia are is seen in WAS, CARMIL2, and DOCK8 mutation that maybe du...

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Bibliographic Details
Published inAnnals of diagnostic pathology Vol. 43; p. 151413
Main Authors Kim, David, Uner, Aysegul, Saglam, Arzu, Chadburn, Amy, Crane, Genevieve M.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2019
Subjects
Actins - metabolism
Child
Child, Preschool
Eosinophilia - immunology
Fatal Outcome
Female
Guanine Nucleotide Exchange Factors - deficiency
Guanine Nucleotide Exchange Factors - genetics
Humans
Infant, Newborn
Lymphoma, B-Cell - genetics
Lymphoma, B-Cell - immunology
Lymphoma, B-Cell - pathology
Lymphoma, B-Cell - therapy
Male
Microfilament Proteins - deficiency
Microfilament Proteins - genetics
Mutation, Missense
Primary Immunodeficiency Diseases - genetics
Primary Immunodeficiency Diseases - immunology
Primary Immunodeficiency Diseases - pathology
Splenectomy
Thrombocytopenia - etiology
Turkey - epidemiology
Wiskott-Aldrich Syndrome - genetics
Wiskott-Aldrich Syndrome - immunology
Wiskott-Aldrich Syndrome - pathology
Wiskott-Aldrich Syndrome - surgery
Turkey
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Summary:•Actin cytoskeletal regulation defects are key effectors in the development of primary immune deficiency.•WASp, CARMIL2, and DOCK8 are regulatory proteins in actin formation that have immune deficiency pathologies.•Peripheral eosinophilia are is seen in WAS, CARMIL2, and DOCK8 mutation that maybe due to defects in actin formation.
Bibliography:ObjectType-Case Study-3
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
ISSN:1092-9134
1532-8198
DOI:10.1016/j.anndiagpath.2019.151413