Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient.

Dysgammaglobulinemia / complications Humans Lymphadenopathy / complications Lymphoproliferative Disorders / diagnosis Male Mutation Splenomegaly / genetics
Lymphoproliferative disorder NFkB1 autoimmune lymphoproliferative disorder bone marrow infiltration case report immunology mutation

Journal

Endocrine, metabolic & immune disorders drug targets
ISSN: 2212-3873
Titre abrégé: Endocr Metab Immune Disord Drug Targets
Pays: United Arab Emirates
ID NLM: 101269157

Informations de publication

Date de publication:
2022
Historique:
received: 06 12 2021
revised: 07 01 2022
accepted: 22 02 2022
pubmed: 9 4 2022
medline: 17 9 2022
entrez: 8 4 2022
Statut: ppublish

Résumé

Lymphoproliferative disorders include a heterogeneous list of conditions that commonly involve dysregulation of lymphocyte proliferation resulting in lymphadenopathy and bone marrow infiltration. These disorders have various presentations, most notably autoimmune manifestations, organomegaly, lymphadenopathy, dysgammaglobulinemia, and increased risk of chronic infections. A young boy presented with symptoms overlapping different lymphoproliferative disorders, including episodes of chronic respiratory tract infections, dysgammaglobulinemia, lymphadenopathy-associated with splenomegaly as well as skin rashes. Genetic studies revealed multiple heterozygous variants, including a novel mutation in the NFκB1 gene. This novel mutation can reveal new aspects in the pathogenesis of lymphoproliferative disorders and propose new treatments for them.

Sections du résumé

BACKGROUND BACKGROUND
Lymphoproliferative disorders include a heterogeneous list of conditions that commonly involve dysregulation of lymphocyte proliferation resulting in lymphadenopathy and bone marrow infiltration. These disorders have various presentations, most notably autoimmune manifestations, organomegaly, lymphadenopathy, dysgammaglobulinemia, and increased risk of chronic infections.
CASE PRESENTATION METHODS
A young boy presented with symptoms overlapping different lymphoproliferative disorders, including episodes of chronic respiratory tract infections, dysgammaglobulinemia, lymphadenopathy-associated with splenomegaly as well as skin rashes. Genetic studies revealed multiple heterozygous variants, including a novel mutation in the NFκB1 gene.
CONCLUSION CONCLUSIONS
This novel mutation can reveal new aspects in the pathogenesis of lymphoproliferative disorders and propose new treatments for them.

Identifiants

DOI: 10.2174/1871530322666220407091356 PMID: 35392793
pubmed: 35392793
pii: EMIDDT-EPUB-122347
doi: 10.2174/1871530322666220407091356
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

1040-1046

Informations de copyright

Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.

Auteurs

Khashayar Danandeh (K)

School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

Parnian Jabbari (P)

Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Research Center for Immunodeficiencies, Children\\\'s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Elham Rayzan (E)

Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
International Hematology/Oncology of Pediatrics Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Research Center for Immunodeficiencies, Children\\\'s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Samaneh Zoghi (S)

Research Center for Immunodeficiencies, Children\\\'s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), Vienna, Austria.
St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
Cemm Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

Sepideh Shahkarami (S)

Department of Pediatrics, Dr. von Hauner Children\\\'s Hospital, University Hospital, Ludwig-Maximilians-Universität München (LMU), Munich, Germany.
Medical Genetics Network (Megene), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

Raul Jimenez Heredia (RJ)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), Vienna, Austria.
St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
Cemm Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Ana Krolo (A)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), Vienna, Austria.
St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
Cemm Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

Bibi Shahin Shamsian (BS)

Department of Pediatric Hematology Oncology, Mofid Children\\\'s Hospital, Tehran, Iran.

Kaan Boztug (K)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), Vienna, Austria.
St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
Cemm Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Nima Rezaei (N)

Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Research Center for Immunodeficiencies, Children\\\'s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

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Classifications MeSH

questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Dysgammaglobulinémie › Case Report of a Novel NFkB Mutation in a...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Case Report of a Novel NFkB Mutation in a...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Maladies lymphatiques › Lymphadénopathie › Case Report of a Novel NFkB Mutation in a...
questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Syndromes lymphoprolifératifs › Case Report of a Novel NFkB Mutation in a...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Case Report of a Novel NFkB Mutation in a...
questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Hypertrophie › Splénomégalie › Case Report of a Novel NFkB Mutation in a...