Associated Papers
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency.
Ono S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2021
Delayed Diagnosis of X-linked Lymphoproliferative Syndrome Type 2 in a 17-year-old Male With Severe Crohn's Disease and Recurrent Skin Infections.
Zacharias SA et al.
Jpgn Reports, 2021
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F et al.
Frontiers in Immunology, 2019
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.
Speckmann C et al.
Clinical Immunology (orlando, Fla.), 2013
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.
Marsh RA et al.
Blood, 2013
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