Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations

J Clin Immunol. 2019 Jul;39(5):523-526. doi: 10.1007/s10875-019-00649-w. Epub 2019 May 29.

Authors

Zohreh Nademi¹, Nesrine Radwan², Kanchan Rao³, Kimberly Gilmour⁴, Austen Worth⁴, Claire Booth⁴

Affiliations

¹ Department of Pediatric Immunology, Great Ormond Street Hospital, London, WC1N 3JH, UK. zohreh.nademi@nuth.nhs.uk.
² Pediatric Allergy and Immunology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt.
³ Bone Marrow Transplant Unit, Great Ormond Street Hospital, London, UK.
⁴ Department of Pediatric Immunology, Great Ormond Street Hospital, London, WC1N 3JH, UK.

No abstract available

Keywords: EBV infection; X-linked lymphoproliferative; hematopoietic stem cell transplant; hemophagocytic lymphohistiocytosis; lymphoma.

Publication types

Case Reports
Letter

MeSH terms

Abdomen / diagnostic imaging
Brain / diagnostic imaging
Child, Preschool
Fatal Outcome
Humans
Infant
Infant, Newborn
Lymphohistiocytosis, Hemophagocytic / diagnostic imaging
Lymphohistiocytosis, Hemophagocytic / genetics*
Lymphoproliferative Disorders / diagnostic imaging
Lymphoproliferative Disorders / genetics*
Male
Mutation
Phenotype
Siblings
Signaling Lymphocytic Activation Molecule Associated Protein / genetics*
Yemen

Substances

SH2D1A protein, human
Signaling Lymphocytic Activation Molecule Associated Protein