Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Adenoid Hyperplasia in a Patient With a Rare Type of Hyper Immunoglobulin M Syndrome Due to Cd40 Deficiency



Bahrami A1 ; Soltani Z1 ; Fazlollahi MR2 ; Rahmani F3, 4, 5 ; Houshmand M6 ; Mazinani M2 ; Rezaei N3, 4, 7
Authors

Source: Acta Medica Iranica Published:2018

Abstract

CD40 deficiency yield to an autosomal recessive subtype of hyper-immunoglobulin M syndrome (HGIM type 3), presenting with an almost identical clinical picture to X-linked CD40L deficiency (HIGM type 1) with profound T-cell dysfunction yielding to opportunistic infections as well as neutropenia, autoimmunity, and malignancy. We presented a girl with recurrent upper respiratory tract infections and lymphoid hyperplasia which was diagnosed with type 3 hyper IgM syndrome due to CD40 gene mutation. Otitis media with opportunistic germs and no evidence for an X-linked pattern of inheritance were diagnostic keys to type 3 hyper IgM syndrome in our patient. © 2018 Tehran University of Medical Sciences. All rights reserved.
Related Docs
View other Related Docs
1. The Hyper Igm Syndromes: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis and Management, Clinical Immunology (2019)
2. Novel Aicda Mutation in a Case of Autosomal Recessive Hyper-Igm Syndrome, Growth Hormone Deficiency and Autoimmunity, Allergologia et Immunopathologia (2017)
3. Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients With Hyper-Immunoglobulin M Syndrome in Iran, International Archives of Allergy and Immunology (2019)
Experts (# of related papers)
View all Related Experts
Nima Rezaei (7)
Zahra Pourpak (2)
Other Related Docs
4. Respiratory Complications in Patients With Hyper Igm Syndrome, Journal of Clinical Immunology (2019)
5. Novel Cd40lg Mutation in Two Cousins With Immunoglobulin Class Switch Recombinant Deficiency, Acta Medica Iranica (2019)
6. Hyperimmunoglobulin E Syndrome: Genetics, Immunopathogenesis, Clinical Findings, and Treatment Modalities, Journal of Research in Medical Sciences (2017)
7. Genetic Analysis of Patients With Two Different Types of Hyper Igm Syndrome, Immunological Investigations (2018)
8. A Newly Found Homozygous Mutation in Recombination Activating Gene 1 in a Patient With Leaky Severe Combined Immunodeficiency Disorder, Molecular Biology Reports (2019)
9. The Clinical Significance of Complete Class Switching Defect in Ataxia Telangiectasia Patients, Expert Review of Clinical Immunology (2017)
10. X-Linked Scid With a Rare Mutation, Allergy# Asthma and Clinical Immunology (2021)
11. Class Switch Recombination Process in Ataxia Telangiectasia Patients With Elevated Serum Levels of Igm, Journal of Immunoassay and Immunochemistry (2015)
12. Evaluation of Radiation Sensitivity in Patients With Hyper Igm Syndrome, Immunological Investigations (2020)
13. Clinical Phenotype Classification for Selective Immunoglobulin a Deficiency, Expert Review of Clinical Immunology (2015)
14. Transient Increased Immunoglobulin Levels in a Hyper-Igm Syndrome Patient With Covid-19 Infection, Allergologia et Immunopathologia (2021)
15. Tnfaip3 Mutation Causing Haploinsufficiency of A20 With a Hemophagocytic Lymphohistiocytosis Phenotype: A Report of Two Cases, Pediatric Rheumatology (2022)
16. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients With Rag Deficiency, Journal of Allergy and Clinical Immunology: In Practice (2019)
17. Clinical, Immunologic, Molecular Analyses and Outcomes of Iranian Patients With Lrba Deficiency: A Longitudinal Study, Pediatric Allergy and Immunology (2017)
18. Autoimmunity in Primary T-Cell Immunodeficiencies, Expert Review of Clinical Immunology (2016)
19. Hyper Ige Syndromes: A Clinical Approach, Clinical Immunology (2022)
20. Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients With an Ocular Problem: Detection of Two New Dock8 Mutations, Iranian Journal of Allergy# Asthma and Immunology (2022)