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

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Journal of Clinical Immunology
Appendix
Available only for authorised users
Literature
1.
2.
Rivière JG, Franco-Jarava C, Martínez-Gallo M, et al. Uncovering low-level maternal gonosomal mosaicism in X-linked agammaglobulinemia: implications for genetic counseling. Front Immunol. 2020;11:46.CrossRefPubMedPubMedCentral
3.
Yang X, Kanegane H, Nishida N, et al. Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol. 2012;32:411–20.CrossRefPubMed
4.
Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, et al. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. J Allergy Clin Immunol. 2019;143:359–68.CrossRefPubMed
5.
Alsina L, González-Roca E, Giner MT, et al. Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. J Allergy Clin Immunol. 2013;132:741–3.CrossRefPubMed
6.
Deng H, Zhang Y, Ding J, et al. Detection of very low-level somatic mosaic COL4A5 splicing variant in asymptomatic female using droplet digital PCR. Front Med (Laussane). 2022;9:847056.CrossRef
Metadata
Title
Maternal Gonosomal Mosaicism Causes XIAP Deficiency
Authors
Dan Tomomasa
Motoi Yamashita
Takahiro Kamiya
Tomohiro Morio
Hirokazu Kanegane
Publication date
28-11-2022
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2023
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-022-01414-2

Other articles of this Issue 3/2023

Journal of Clinical Immunology 3/2023 Go to the issue

Letter to Editor

Through Education and Collaboration to Better Care for Primary Imunodeficiencies in Albania and Kosovo

Original Article

BT595, a 10% Human Normal Immunoglobulin, for Replacement Therapy of Primary Immunodeficiency Disease: Results of a Subcohort Analysis in Children

Original Article

Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders

Original Article

Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers

Letter to Editor

Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency

Original Article

FASCIA Method in the Assessment of Lymphocyte Mitogen Responses in the Laboratory Diagnostics of Primary Immunodeficiencies
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 discuss 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 discuss 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