X-Linked Combined Immunodeficiency Diseases

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.


May 25, 2020
Case Report
Open Access

Fatal SARS-CoV-2 coinfection in course of EBV-associated lymphoproliferative disease

Annals of Hematology
Luca RoncatiAntonio Manenti
March 24, 2020

Functional interaction of ventral hippocampal CA1 region and prelimbic cortex contributes to the encoding of contextual fear association of stimuli separated in time

Neurobiology of Learning and Memory
Thays Brenner SantosMaria Gabriela Menezes Oliveira
January 5, 2020
Case Report

Double-hit monomorphic B-cell lymphoma after liver transplantation

BMJ Case Reports
Zabreen TahirFelipe Batalini
November 20, 2019

Monozygotic Twins Discordant for Kennedy Disease: A Case Report

Journal of Clinical Neuromuscular Disease
Cyprian Popescu
December 10, 2019
Comment / Editorial

XMEN: welcome to the glycosphere

The Journal of Clinical Investigation
Hudson H Freeze
November 14, 2019

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

The Indian Journal of Medical Research
Sankaramoorthy AravindArun Shastry
December 5, 2019
Case Report

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype

Clinical and Experimental Immunology
A Arcas-GarcíaC Franco-Jarava
February 20, 2020
Open Access

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Journal of Clinical Immunology
Elina A TuovinenMikko R J Seppänen
January 30, 2020
Open Access

Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease

Pediatric Blood & Cancer
Lamberto Torralba-RagaYenan Bryceson
July 11, 2020

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Science
Sarah A CookMichael J Lenardo
November 28, 2019
Review

International perspectives on the implementation of reproductive carrier screening

Prenatal Diagnosis
Martin B DelatyckiJoël Zlotogora
December 18, 2019

Regulation of Cell Death and Immunity by XIAP

Cold Spring Harbor Perspectives in Biology
Philipp J Jost, Domagoj Vucic
November 7, 2019
Open Access

Structure activity relationship studies on Amb639752: toward the identification of a common pharmacophoric structure for DGKα inhibitors

Journal of Enzyme Inhibition and Medicinal Chemistry
Suresh VelnatiGianluca Baldanzi
November 23, 2019
Open Access

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic

European Journal of Pediatrics
Tao XuXiaodong Zhao
October 25, 2019

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

Nature
Matthias HaffkeVeli-Pekka Jaakola
March 30, 2020

Toward Development of the Delayed Tolerance Induction Protocol for Vascularized Composite Allografts in Nonhuman Primates

Plastic and Reconstructive Surgery
Alexandre G LellouchCurtis L Cetrulo

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