Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2021

01-04-2021 | Immunodeficiency | Letter to Editor

Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome

Authors: Kanako Mitsui-Sekinaka, Satoshi Narumi, Yujin Sekinaka, Kenji Uematsu, Yusuke Yoshida, Naoko Amano, Hirohito Shima, Tomonobu Hasegawa, Shigeaki Nonoyama

Published in: Journal of Clinical Immunology | Issue 3/2021

Login to get access

Excerpt

To the Editor: …
Appendix
Available only for authorised users
Literature
1.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Hasegawa T, et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48(7):792–7.CrossRef
2.
Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, et al. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet. 2018;55(2):81–5.CrossRef
3.
Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, et al. MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS One. 2018;13(11):e0206184.CrossRef
4.
Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653–5.CrossRef
5.
Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, Naomi MG, et al. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med. 2011;208(2):227–34.CrossRef
6.
Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011;365(2):127–38.CrossRef
7.
Mekhedov SL, Makarova KS, Koonin EV. The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis. Biol Direct. 2017;12:13.CrossRef
8.
Tesmer LA, Lundy SK, Sarkar S, Fox DA. Th17 cells in human disease. Immunol Rev. 2008;223:87–113.CrossRef
9.
Iwakura Y, Nakae S, Saijo S, Ishigame H. The roles of IL-17A in inflammatory immune responses and host defense against pathogens. Immunol Rev. 2008;226:57–79.CrossRef
10.
Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Fronkova E, et al. Novel SAMD9 mutation in a patient with immunodeficiency, neutropenia, impaired anti-CMV response, and severe gastrointestinal involvement. Front Immunol. 2019;10:2194.CrossRef
Metadata
Title
Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome
Authors
Kanako Mitsui-Sekinaka
Satoshi Narumi
Yujin Sekinaka
Kenji Uematsu
Yusuke Yoshida
Naoko Amano
Hirohito Shima
Tomonobu Hasegawa
Shigeaki Nonoyama
Publication date
01-04-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00964-7

Other articles of this Issue 3/2021

Journal of Clinical Immunology 3/2021 Go to the issue

Letter to Editor

Novel IL36RN Mutation Identified in Pediatric-Onset Generalized Pustular Psoriasis Causes IL36 Antagonist Degradation

Original Article

Liver Abscess in Chronic Granulomatous Disease—Two Decades of Experience from a Tertiary Care Centre in North-West India

Original Article

Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia

Original Article

Central Nervous System Histoplasma-Associated Post-infectious Inflammatory Response Syndrome (Histo-PIIRS)

Original Article

TREC Screening for WHIM Syndrome

Letter to Editor

Benralizumab in Severe and Refractory PDGFRA-Negative Hypereosinophilic Syndrome
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits