Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency

Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency

Objective: To perform clinical and genetic investigations in two patients suffering from Artemis deficiency with total deficiency of T-B- lymphocytes. Methods: We enrolled a Pakistani family with one male patient suffering from Severe Combined Immune Deficiency (SCID). Immunological investigation...

Full description

Saved in:

Bibliographic Details
Main Authors:	Saddaf Ayub, Abeerah Zainub, Nida Shafi, Zara Khalid Khan, Lubna Siddique, Syed Irfan Raza
Format:	Article
Language:	English
Published:	Rawalpindi Medical University 2025-01-01
Series:	Journal of Rawalpindi Medical College
Online Access:	https://www.journalrmc.com/index.php/JRMC/article/view/2663
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family
by: Shahida Awais, et al.
Published: (2024-06-01)

Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy
by: Neha Goel
Published: (2025-01-01)

Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases
by: Hassan Khojasteh, et al.
Published: (2021-01-01)

Therapeutic Potential of α-Synuclein Evolvability for Autosomal Recessive Parkinson’s Disease
by: Jianshe Wei, et al.
Published: (2021-01-01)

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
by: Xue Gao, et al.
Published: (2017-01-01)

Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease
by: Lauren G. Russell, et al.
Published: (2025-01-01)

Patient Perceptions of Surgeon Attire, Professionalism, and Gender Bias in Pakistani Public Hospitals
by: Maham Arshad, et al.
Published: (2025-02-01)

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype
by: Gabriela Mantilla Beltrán, et al.
Published: (2024-11-01)

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability
by: R. Curtis Rogers, et al.
Published: (2011-01-01)

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
by: Shusuke Yagi, et al.
Published: (2024-08-01)

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease
by: Pankaj Thakur, et al.
Published: (2014-01-01)

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
by: Fengguo Zhang, et al.
Published: (2018-01-01)

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
by: Jan Fischer, et al.
Published: (2025-01-01)

A Corpus-Based Analysis of the Use of Singular Nouns by Pakistani Students in Higher Education
by: Mahmood Ahmad, et al.
Published: (2024-09-01)

Estimation of Knowledge, Attitude and Prevalence of Female Sex Dysfunction in Elderly Pakistani Women
by: Khola Noreen, et al.
Published: (2024-09-01)

Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
by: Diana Mokhtari, et al.
Published: (2024-08-01)

Indigenization of Pakistani English in Kanza Javed’s Ashes, Wine and Dust
by: Maryam Arshad, et al.
Published: (2024-09-01)

Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
by: Yasuyuki Fujii, et al.
Published: (2025-01-01)

Global Gene Expression Profiling in PPAR-γ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease
by: Daisuke Yoshihara, et al.
Published: (2012-01-01)

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
by: Pengcheng Xu, et al.
Published: (2020-01-01)

Discrimination of Pakistani Fountain Pen Inks by Gas Chromatography-Mass Spectrometry (GC-MS)
by: Mehwish Sharif, et al.
Published: (2022-01-01)

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)
by: Zul Qarnain, et al.
Published: (2022-01-01)

17 amendments of the Pakistani constitution
by: O. A. Popadyuk
Published: (2009-12-01)

Predicting Risk through Artificial Intelligence Based on Machine Learning Algorithms: A Case of Pakistani Nonfinancial Firms
by: Shamsa Khalid, et al.
Published: (2022-01-01)

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
by: Aurélie Louit, et al.
Published: (2023-01-01)

Dermoscopic And Clinical Features Of Alopecia Areata In Pakistani Patients: A Cross-Sectional Study
by: Mahwish Ahmed, et al.
Published: (2025-01-01)

TALome and phenotypic analysis of Pakistani Xanthomonas oryzae pv. oryzae population revealed novel virulent TALEs contributing to bacterial blight of rice
by: Syed Mashab Ali Shah, et al.
Published: (2025-01-01)

Trajectory of human migration: insights from autosomal and non-autosomal variant clustering patterns
by: Samayeta Sarkar Tuli, et al.
Published: (2025-03-01)

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
by: Vera G. Pshennikova, et al.
Published: (2019-01-01)

The Issue of the UK’s Pakistani Community Acculturation
by: Ulyana V. Klimenko
Published: (2024-08-01)

Unveiling the obstacles encountered by women doctors in the Pakistani healthcare system: A qualitative investigation.
by: Ali Raza, et al.
Published: (2023-01-01)

Efficacy of Sub-Conjunctival Injection of Mitomycin C Versus Bevacizumab in Pterygium Treatment: Pakistani Population
by: Amber khalid, et al.
Published: (2025-01-01)

Global recession scenarios
by: Henning Vöpel
Published: (2020-04-01)

Spatiotemporal analysis of surface Urban Heat Island intensity and the role of vegetation in six major Pakistani cities
by: Shoaib Ahmad Anees, et al.
Published: (2025-03-01)

Corona Crisis: Transformative Recession
by: Christian Hutter, et al.
Published: (2020-07-01)

The role playing by social media in COVID-19 to exacerbate anxiety and depression among Pakistani community
by: Sadia Yasir Khan, et al.
Published: (2023-01-01)

A Cross-Sectional Study Exploring Mental Health among Patients Suffering from Dengue in Pakistani Tertiary Care Hospitals
by: null Faiza, et al.
Published: (2023-01-01)

FREQUENCY OF RH-D NEGATIVE & WEAK D IN PAKISTANI POPULATION
by: Muhammad Usman et al
Published: (2024-09-01)

An exploration of mindfulness during the Islamic prayer in British and Pakistani Muslims
by: Khadeeja Ahmed, et al.
Published: (2025-12-01)

Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
by: I. Mouna Ben Amor, et al.
Published: (2011-01-01)