A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome-Reference-Cited by-同舟云学术

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome

Published:2022-09-01 Issue:3 Volume:35 Page:129-132
ISSN:2151-321X
Container-title:Pediatric Allergy, Immunology, and Pulmonology
language:en
Short-container-title:Pediatric Allergy, Immunology, and Pulmonology

Author:

Kisla Ekinci Rabia Miray¹^ORCID,Zararsiz Aslıhan²,Urel Demir Gizem³,Anlas Ozlem⁴

Affiliation:

1. Department of Pediatric Rheumatology, Adana City Training and Research Hospital, Adana, Turkey.

2. Department of Pediatrics, Mersin City Hospital, Mersin, Turkey.

3. Department of Pediatric Genetics, Mersin City Hospital, Mersin, Turkey.

4. Department of Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey.

Publisher

Mary Ann Liebert Inc

Subject

Pulmonary and Respiratory Medicine,Immunology and Allergy,Pediatrics, Perinatology and Child Health

Link

https://www.liebertpub.com/doi/pdf/10.1089/ped.2022.0090

Reference12 articles.

1. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

2. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

3. SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis

4. TRNT1 deficiency: clinical, biochemical and molecular genetic features

5. Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

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1. Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review;Frontiers in Pediatrics;2023-03-02

2. Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD);Journal of Clinical Immunology;2023-02-02

3. Colchicine;Reactions Weekly;2022-12-10