Shahnaz Bibi

Great Ormond Street Hospital
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Diagnosis of HLH: two siblings, two distinct genetic causes.

Diagnosis of HLH: two siblings, two distinct genetic causes.

Journal: Clinical and experimental immunology

Published: September 14, 2021

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency.

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency.

Journal: Journal of clinical immunology

Published: September 17, 2019

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Journal: Journal of clinical immunology

Published: February 13, 2019

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.

Journal: Journal of pediatric hematology/oncology

Published: June 26, 2018

One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years.

One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years.

Journal: The Journal of allergy and clinical immunology

Published: January 28, 2018

Drug-induced inhibition of phosphorylation of STAT5 overrides drug resistance in neoplastic mast cells.

Drug-induced inhibition of phosphorylation of STAT5 overrides drug resistance in neoplastic mast cells.

Journal: Leukemia

Published: June 20, 2017

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Journal: Journal of clinical immunology

Published: December 16, 2015

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.

Journal: Journal of clinical immunology

Published: December 11, 2015

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

Journal: Clinical immunology (Orlando, Fla.)

Published: April 25, 2015

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

Journal: Journal of clinical immunology

Published: January 16, 2014

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.

Journal: Clinical immunology (Orlando, Fla.)

Published: June 11, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026