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X-Linked Combined Immunodeficiency Diseases

X-Linked Combined Immunodeficiency Diseases diagram by Designua, Shutterstock
Designua, Shutterstock

X-linked severe combined immunodeficiency is caused by mutations in the common cytokine-receptor gamma chain, resulting in disruption of development of T lymphocytes and natural-killer cells. Here is the latest research.


Top 20 most recent papers
Nature

Structural basis of species-selective antagonist binding to the succinate receptor

NatureOctober 25, 2019
Matthias HaffkeVeli-Pekka Jaakola
27
1
26
1
1
Frontiers in Immunology

Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells

Frontiers in ImmunologyDecember 6, 2019
Emily S J EdwardsMenno C van Zelm
21
1
Frontiers in Immunology

Flow Cytometric-Based Analysis of Defects in Lymphocyte Differentiation and Function Due to Inborn Errors of Immunity

Frontiers in ImmunologySeptember 26, 2019
Cindy S Ma, Stuart G Tangye
13
9
Journal of Pediatric Hematology/oncology

A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

Journal of Pediatric Hematology/oncologyAugust 16, 2019
Eliska FurlongRishi S Kotecha
PeerJ

A comprehensive molecular phylogeny of Geometridae (Lepidoptera) with a focus on enigmatic small subfamilies

PeerJSeptember 17, 2019
Leidys Murillo-RamosNiklas Wahlberg
49
10
Kidney & Blood Pressure Research

Living Kidney Donation in a Type 1 Dent's Disease Patient from His Mother

Kidney & Blood Pressure ResearchOctober 10, 2019
Giovanni GambaroFranco Citterio
Materials

Experimental and Theoretical Investigations of the Constitutive Relations of Artificial Frozen Silty Clay

MaterialsOctober 2, 2019
Zhiming LiChaojun Mao
Cold Spring Harbor Perspectives in Biology

Regulation of Cell Death and Immunity by XIAP

Cold Spring Harbor Perspectives in BiologyDecember 18, 2019
Philipp J Jost, Domagoj Vucic
Case Reports in Neurology

The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report

Case Reports in NeurologyOctober 15, 2019
Ken MomosakiKimitoshi Nakamura
The American Journal of Dermatopathology

Primary Cutaneous Clonal CD8+ T-Cell Lymphoproliferative Disorder Associated With Immunodeficiency due to RAG1 Mutation

The American Journal of DermatopathologyJuly 18, 2019
Emily Avitan-HershReuven Bergman
1
2
Frontiers in Immunology

The Role of Adaptor Proteins in the Biology of Natural Killer T (NKT) Cells

Frontiers in ImmunologyJuly 12, 2019
Evelyn Gerth, Jochen Mattner
3
4
Journal of Clinical and Experimental Hematopathology : JCEH

Other Iatrogenic Immunodeficiency-Associated Lymphoproliferative Disorders with a T- or NK-cell phenotype

Journal of Clinical and Experimental Hematopathology : JCEHJuly 2, 2019
Akira SatouShigeo Nakamura
3
3
Journal of the American Society of Nephrology : JASN

Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model

Journal of the American Society of Nephrology : JASNNovember 4, 2019
Megan L GliozziOra A Weisz
7
La Presse médicale

Histopathological classification of chronic B-lymphoproliferative disorders

La Presse médicaleAugust 27, 2019
Christophe BontouxThierry Jo Molina
International Journal of Ophthalmology

Novel mutation in OCRL leading to a severe form of Lowe syndrome

International Journal of OphthalmologyJuly 26, 2019
Feng-Qi ZhouWei-Rong Chen
La Presse médicale

Chronic B-lympho-proliferative disorders

La Presse médicaleAugust 24, 2019
Bruno Varet
The Indian Journal of Medical Research

Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations

The Indian Journal of Medical ResearchNovember 14, 2019
Sankaramoorthy AravindArun Shastry
7
Journal of Medical Case Reports

Hepatic methotrexate-associated lymphoproliferative disorders identified by multiple liver tumors: a case report and review of the literature

Journal of Medical Case ReportsJune 28, 2019
Ryohei OnoMasaki Yoshizawa
1
1
Journal of cardiology

Left ventricular noncompaction - Risk stratification and genetic consideration

Journal of cardiologyOctober 21, 2019
Fukiko Ichida
The Journal of Clinical Investigation

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

The Journal of Clinical InvestigationNovember 13, 2019
Juan C RavellMichael J Lenardo
67
3
8

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