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“Immune” Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant


Sundin, Mikael; Marits, Per; Nierkens, Stefan; Kolios, Antonios G A; Nilsson, Jakob (2018). “Immune” Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant. Journal of Pediatric Hematology/Oncology, 41(2):155-157.

Abstract

Thrombocytopenia presenting during early childhood is most commonly diagnosed as immune/idiopathic thrombocytopenic purpura (ITP), where the antibody-mediated destruction of thrombocytes is often transient. If treatment is indicated, the majority of patients respond to immune-modulation by intravenous immunoglobulin G infusion or systemic corticosteroids. Differential diagnoses to childhood ITP includes thrombocytopenia due to infections, drugs, rheumatologic conditions, immune dysregulation, and inherited bone marrow failures, for example, congenital amegakaryocytic thrombocytopenia. Isolated thrombocytopenia in an otherwise healthy appearing child that recurs after therapy and/or persists suggest a differential diagnosis rather than ITP. We present a case of symptomatic thrombocytopenia in a 2-year-old girl associated with adenosine deaminase deficiency.

Abstract

Thrombocytopenia presenting during early childhood is most commonly diagnosed as immune/idiopathic thrombocytopenic purpura (ITP), where the antibody-mediated destruction of thrombocytes is often transient. If treatment is indicated, the majority of patients respond to immune-modulation by intravenous immunoglobulin G infusion or systemic corticosteroids. Differential diagnoses to childhood ITP includes thrombocytopenia due to infections, drugs, rheumatologic conditions, immune dysregulation, and inherited bone marrow failures, for example, congenital amegakaryocytic thrombocytopenia. Isolated thrombocytopenia in an otherwise healthy appearing child that recurs after therapy and/or persists suggest a differential diagnosis rather than ITP. We present a case of symptomatic thrombocytopenia in a 2-year-old girl associated with adenosine deaminase deficiency.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Immunology
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Hematology
Health Sciences > Oncology
Uncontrolled Keywords:Pediatrics, Perinatology, and Child Health, Oncology, Hematology
Language:English
Date:1 April 2018
Deposited On:07 Mar 2019 12:45
Last Modified:29 Jul 2020 10:12
Publisher:Lippincott Williams & Wilkins
ISSN:1077-4114
OA Status:Green
Publisher DOI:https://doi.org/10.1097/mph.0000000000001132
PubMed ID:29620681

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