Cargando…

Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes

18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a 12-year-old girl with severe phenotype of 18q deletion syndrome, frequent infections, typ...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hogendorf, Anna, Szadkowska, Agnieszka, Michalak, Arkadiusz, Surman, Marta, Trojan-Borczynska, Karolina, Młynarski, Wojciech, Janczar, Szymon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8442480/ https://www.ncbi.nlm.nih.gov/pubmed/34514903 http://dx.doi.org/10.1177/20587384211039400

Ejemplares similares

Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency
por: Hogendorf, Anna, et al.
Publicado: (2021)

A cross‐sectional study of patients referred for HNF1B‐MODY genetic testing due to cystic kidneys and diabetes
por: Sztromwasser, Paweł, et al.
Publicado: (2020)

Three-year comparison of subcutaneous insulin pump treatment with multi-daily injections on HbA1c, its variability and hospital burden of children with type 1 diabetes
por: Fendler, Wojciech, et al.
Publicado: (2011)

The Role of Histone Protein Modifications and Mutations in Histone Modifiers in Pediatric B-Cell Progenitor Acute Lymphoblastic Leukemia
por: Janczar, Szymon, et al.
Publicado: (2017)

GlyCulator 3.0: A Fast, Easy-to-Use Analytical Tool for CGM Data Analysis, Aggregation, Center Benchmarking, and Data Sharing
por: Chrzanowski, Jędrzej, et al.
Publicado: (2023)

Physical workload and glycemia changes during football matches in adolescents with type 1 diabetes can be comparable
por: Gawrecki, Andrzej, et al.
Publicado: (2019)

Multi-Timepoint Metabolic Fingerprinting of a Post-Episode Period of Hypoglycemia and Ketoacidosis Among Children With Type 1 Diabetes
por: Małachowska, Beata, et al.
Publicado: (2022)

Pulmonary Exacerbation of Undiagnosed Toxocariasis in Intensively-Treated High-Risk Neuroblastoma Patients
por: Janczar, Szymon, et al.
Publicado: (2020)

Vaccination in children with chronic severe neutropenia – review of recommendations and a practical approach
por: JANCZAR, SZYMON, et al.
Publicado: (2020)

The paradox of autoimmunity and autoinflammation in inherited neutrophil disorders – in search of common patterns
por: Krzyzanowski, Damian, et al.
Publicado: (2023)

Breaking the Taboo: Illicit Drug Use among Adolescents with Type 1 Diabetes Mellitus
por: Hogendorf, Anna M., et al.
Publicado: (2016)

Efficacy of Metabolic and Psychological Screening for Mood Disorders Among Children With Type 1 Diabetes
por: Butwicka, Agnieszka, et al.
Publicado: (2012)

Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease
por: Skoda-Smith, Suzanne, et al.
Publicado: (2010)

Autoimmune reaction against pancreatic beta cells in children and adolescents with simple obesity
por: Chylińska-Frątczak, Aneta, et al.
Publicado: (2022)

Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk
por: Kusinska, Renata, et al.
Publicado: (2011)

Incidence of hyperglycaemic disorders in children and adolescents with obesity
por: Chylińska-Frątczak, Aneta, et al.
Publicado: (2022)

Terminal 18q deletions are stabilized by neotelomeres
por: Guilherme, Roberta Santos, et al.
Publicado: (2015)

Shift from intravenous or 16% subcutaneous replacement therapy to 20% subcutaneous immunoglobulin in patients with primary antibody deficiencies
por: Canessa, Clementina, et al.
Publicado: (2016)

Evaluation of correlation between dose and clinical outcomes in subcutaneous immunoglobulin replacement therapy
por: Orange, J S, et al.
Publicado: (2012)

Initiation of immunoglobulin therapy by subcutaneous administration in immunodeficiency patients naive to replacement therapy
por: Koterba, Alan P, et al.
Publicado: (2014)

Altered Platelets’ morphological parameters in children with type 1 diabetes – a case-control study
por: Malachowska, Beata, et al.
Publicado: (2015)

Uncommon reasons of the digestive tract-related paraneoplastic syndromes in children with neuroblastic tumors: three case reports
por: Czkwianianc, Elżbieta, et al.
Publicado: (2018)

Subcutaneous immunoglobulin replacement therapy in a heart transplant recipient with severe recurrent infections
por: Carbone, Javier, et al.
Publicado: (2015)

Cost-effectiveness analysis of subcutaneous immunoglobulin replacement therapy in Iranian patients with primary immunodeficiencies
por: Shabaninejad, Hosein, et al.
Publicado: (2017)

Subcutaneous immunoglobulin replacement for treatment of humoral immune dysfunction in patients with chronic lymphocytic leukemia
por: Mustafa, S. Shahzad, et al.
Publicado: (2021)

Features of Two Cases with 18q Deletion Syndrome
por: Özsu, Elif, et al.
Publicado: (2014)

Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level
por: Fendler, Wojciech, et al.
Publicado: (2014)

Influence of Interleukin IL-2 and IL-12 + IL-18 on Surface Expression of Immunoglobulin-Like Receptors KIR2DL1, KIR2DL2, and KIR3DL2 in Natural Killer Cells
por: Chrul, Slawomir, et al.
Publicado: (2006)

The Stricter the Better? The Relationship between Targeted HbA(1c) Values and Metabolic Control of Pediatric Type 1 Diabetes Mellitus
por: Braun, Marcin, et al.
Publicado: (2016)

Diabetes Related Distress in Children with Type 1 Diabetes before and during the COVID-19 Lockdown in Spring 2020
por: Mianowska, Beata, et al.
Publicado: (2021)

L-thyroxine Stabilizes Autoimmune Inflammatory Process in Euthyroid Nongoitrous Children with Hashimoto’s Thyroiditis and Type 1 Diabetes Mellitus
por: Korzeniowska, Katarzyna, et al.
Publicado: (2013)

Unfavorable Outcome of Neuroblastoma in Patients With 2p Gain
por: Szewczyk, Katarzyna, et al.
Publicado: (2019)

Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions
por: Dardik, Rima, et al.
Publicado: (2023)

Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age
por: Patel, Niraj C., et al.
Publicado: (2015)

New Frontiers in Subcutaneous Immunoglobulin Treatment
por: Jolles, Stephen, et al.
Publicado: (2011)

Use of subcutaneous immunoglobulin in inflammatory myositis
por: Zhou, Alan L, et al.
Publicado: (2021)

Ten-year population trends of immunoglobulin use, burden of adult antibody deficiency and feasibility of subcutaneous immunoglobulin (SCIg) replacement in Hong Kong Chinese
por: Kan, Andy Ka Chun, et al.
Publicado: (2022)

Case report of a novel phenotype in 18q deletion syndrome
por: Bohîlţea, Roxana Elena, et al.
Publicado: (2020)

An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline TP53 p.Phe338Leu Tetramerisation Domain Variant
por: Walenciak, Justyna, et al.
Publicado: (2023)

Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Immunodeficiency in Routine Clinical Practice: The VISPO Prospective Multicenter Study
por: Vultaggio, Alessandra, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_77q52lgd24dnmqo754d69to0sr