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
December 18, 2020
Review
Open Access

Immune Reconstitution After Gene Therapy Approaches in Patients With X-Linked Severe Combined Immunodeficiency Disease

Frontiers in Immunology
Elena BlancoAdrian James Thrasher
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 14, 2021
Review
Open Access

Magnesium in Infectious Diseases in Older People

Nutrients
Ligia J DominguezMario Barbagallo
January 5, 2020
Case Report

Double-hit monomorphic B-cell lymphoma after liver transplantation

BMJ Case Reports
Zabreen TahirFelipe Batalini
August 11, 2020
Case Report
Open Access

X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases

Case Reports in Medicine
Ieva NokalnaLinda Gailite
December 10, 2019
Comment / Editorial
Open Access

XMEN: welcome to the glycosphere

The Journal of Clinical Investigation
Hudson H Freeze
December 21, 2020
Open Access

Magnesium levels and outcome after allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia

Annals of Hematology
Linus AngenendtChristoph Schliemann
August 14, 2020

A novel pathogenic SH2D1A mutation for X-linked lymphoproliferative syndrome type 1

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Abeer FeteihChristine McCusker
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
November 26, 2020
Open Access

Development of a rabbit model of Wiskott-Aldrich syndrome

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
Juanjuan ZhouQingjian Zou
August 21, 2020

Hemophagocytic lymphohistiocytosis secondary to X-linked lymphoproliferative syndrome type 2

Medicina clínica
Pedro Laguna Del EstalSonia García Prieto
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
December 23, 2019
Review

Alopecia as a systemic disease

Clinics in Dermatology
Sonali NandaMariya Miteva
July 11, 2020
Open Access

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

Science
Sarah A CookMichael J Lenardo
November 28, 2019
Review
Open Access

International perspectives on the implementation of reproductive carrier screening

Prenatal Diagnosis
Martin B DelatyckiJoël Zlotogora

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