Cover Image

Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation

Abstract Background Acute respiratory distress syndrome (ARDS) causes significant mortality in young children with certain diseases. Early diagnosis and treatment can reduce infant mortality. Here, we report a rare case of exome sequencing in the early diagnosis of immunodeficiency in an infant. Cas...

Full description

Saved in:

Bibliographic Details
Main Authors:	Xue Gong (Author), Yunru He (Author), Guoyan Lu (Author), Yulin Zhang (Author), Yu Qiu (Author), Lina Qiao (Author), Yifei Li (Author)
Format:	Book
Published:	BMC, 2022-07-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China
by: Huifeng Fan, et al.
Published: (2022)

Case Report: Identification of Polygenic Mutations by Exome Sequencing
by: Yanfeng Liu, et al.
Published: (2021)

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
by: Hong-bo Xu, et al.
Published: (2023)

Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations
by: Sho Egashira, et al.
Published: (2016)

Exome sequencing identifies novel and known mutations in families with intellectual disability
by: Memoona Rasheed, et al.
Published: (2021)

An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing
by: Jinsup Kim, et al.
Published: (2017)

Mapping of the mutational landscape of Juvenile Myelomonocytic Leukemia patients by whole exome sequencing
by: Aditya Kumar Gupta, et al.
Published: (2024)

mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
by: Kyoung Hee Han, et al.
Published: (2019)

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
by: Chao Ling, et al.
Published: (2019)

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature
by: Zilong Qiu, et al.
Published: (2022)

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome
by: Talal J. Qazi, et al.
Published: (2020)

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
by: Mahjoubeh Jalali-, et al.
Published: (2018)

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families
by: Yingjie Zhou, et al.
Published: (2020)

Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases
by: Vianey Ordoñez-Labastida, et al.
Published: (2022)

Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a Mutation Detected Using Whole Exome Sequencing
by: Seong Bae Ahn, et al.
Published: (2021)

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
by: Shanshan Xu, et al.
Published: (2017)

Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene
by: Deniss Sõritsa, et al.
Published: (2018)

The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing
by: Eun Mi Choi, et al.
Published: (2018)

Case report: mutation analysis of primary pulmonary lymphoepithelioma-like carcinoma via whole-exome sequencing
by: Hong Xuan, et al.
Published: (2019)

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole‐exome sequencing
by: Yeran Yang, et al.
Published: (2021)

Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection
by: Wenwen Zhang, et al.
Published: (2018)

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
by: Ben Pode-Shakked, et al.
Published: (2019)

PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING
by: N. V. Shcherbakova, et al.
Published: (2015)

PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING
by: N. V. Shcherbakova, et al.
Published: (2015)

Exome sequencing in pediatric hematology: Where it falls short
by: Robert Selvam, et al.
Published: (2024)

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients
by: Shaghayegh SABRI, et al.
Published: (2016)

Whole-exome sequencing of a pedigree segregating asthma
by: DeWan Andrew T, et al.
Published: (2012)

Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
by: Chunyan Jin, et al.
Published: (2021)

Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
by: Hu X, et al.
Published: (2021)

The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort
by: Xin Jiang, et al.
Published: (2021)

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly
by: Muhammad Imran Naseer, et al.
Published: (2021)

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report
by: Dan Sun, et al.
Published: (2020)

Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer
by: Le Qu, et al.
Published: (2019)

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability
by: Louise Montagne, et al.
Published: (2018)

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
by: Lusi Zhang, et al.
Published: (2019)

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy
by: Muhammad Imran Naseer, et al.
Published: (2022)

Fetal Precision Medicine Achieved with Trio Exome Sequencing Analysis
by: Katia Margiotti, et al.
Published: (2024)

Secondary findings in prenatal exome sequencing: Ethical and counseling challenges
by: Yu Yang, et al.
Published: (2022)

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing
by: Daniel Felipe Silgado-Guzmán, et al.
Published: (2022)

DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING
by: A. I. Yershova, et al.
Published: (2015)