FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3094490826> ?p ?o ?g. }

• W3094490826 abstract "Expanding Clinical Spectrum of Female X-linked Lymphoproliferative Syndrome 2Shruthi Suryaprakash, MD1, Mohammad El-Baba2, MD, Kelly J. Walkovich, MD3, Süreyya Savaşan, MD41Children’s Hospital of Michigan2Division of Gastroenterology, Children’s Hospital of Michigan3Division of Hematology/Oncology, Immuno-Hematology Comprehensive Program, C.S. Mott Children’s Hospital, University of Michigan4Division of Hematology/Oncology and Blood and Marrow Transplant Program, Children’s Hospital of Michigan, Carman and Ann Adams Department of Pediatrics, Barbara Ann Karmanos Cancer Center, Central Michigan University College of MedicineCorrespondence: Süreyya Savaşan, MD3901 Beaubien Blvd.Division of Hematology/OncologyBlood and Marrow Transplant ProgramChildren’s Hospital of MichiganDetroit, Michigan 48201E-mail: savas1s@cmich.eduPhone: 313-745-5516 Fax: 313-745-5237Text word count: 495Reference count: 4Tables and figures: 1Short running title: Spectrum of Symptomatic Female XLP2Key words: Female XLP2, EBV reactivation, Vitamin B12 deficiency, B-cell lymphopenia, clonal T-LGL proliferationDear Editor:X-linked lymphoproliferative syndrome type 2 (XLP2) due to pathogenic variants in the X-linked inhibitor of apoptosis (XIAP) gene is a rare cause of primary immunodeficiency. Symptomatic patients, primarily males, present with hemophagocytic lymphohistiocytosis (HLH), inflammatory bowel disease (IBD) and/or transient hypogammaglobinaemia.1 However, XLP2 in female patients is complicated with the rarity of symptomatic cases and clinical heterogeneity.2 We report a female affected by XLP2 with previously unreported findings.A currently 18-year-old female presented with fever, abdominal pain, diffuse lymphadenopathy, splenomegaly, and pancytopenia three years ago. She was diagnosed with HLH, treated with steroids and found to have low B-cells and borderline hypogammaglobinemia. Additionally, a single pathogenic variant in XIAP (c.389_392delACAG [p.Asp130Glyfs*11]) was identified. Further workup showed presence of EBV IgG, and normal expression of XIAP protein in only 8-19% of various white blood cell types by flow cytometry indicating skewed X chromosome inactivation. She had intermittent infections, one resulting in an additional HLH flare with elevated IL-18 and CXCL9 levels that was treated with steroids and intravenous immunoglobulin (IVIG). Repeated EBV PCR testing had been negative.However, she was found to have EBV reactivation with positive EBV VCA-IgM, high titer VCA-IgG and EA-IgG levels while EBV-PCR was negative when she presented to our clinic with diarrhea. There was ongoing history of headaches, abdominal pain, joint pain, and ADHD at that time. Later, she underwent work up for recurrent abdominal pain, diarrhea, urgency and elevated fecal calprotectin. MRI-enterography and capsule endoscopy were negative. Endoscopy was remarkable for chronic active proctitis. She was prescribed mesalamine with significant improvement in abdominal pain and resolution of mucuosy stools.Due to persistent knee/ankle pain, she was investigated for peripheral neuropathy and was found to have low vitamin B12 levels (112-145pg/mL; N:180-914) without dietary restrictions, absent anti-intrinsic factor antibodies and negative family history. Her pain improved significantly on vitamin B12 injections and gabapentin with normalization of vitamin B12 levels.She continued to have fluctuating and borderline low levels of serum immunoglobulins with persistently low B-cells. She was given IVIG supplementation when serum IgG levels were low. No additional HLH flares have occurred. Mild increase in CD5-dim T-cells (9%) representing T-large granular lymphocytes (T-LGL) and clonal T-cell receptor (TCR) rearrangement pattern were identified in peripheral blood. She continues to have migraine episodes and very high EA-IgG at >150U/mL (N <9).Female carriers are at risk for extra hematopoietic manifestations, if they have an extremely skewed X chromosome inactivation.3 She was EBV-PCR negative, but EBV VCA-IgM positive repeatedly suggesting a recent reactivation at presentation to our institution. Persistent high EBV EA-IgG titers is suggestive of ongoing EBV challenge due to immune deficiency and emphasizes the significance of EBV serology testing. Clonal T-LGL expansion may be related to EBV and/or immune deficiency.4 Low vitamin B12 raises the possibility of impairment in absorption; the presence of proctitis raises possible subclinical inflammation in the distal ileum. Observed conditions in this case add to the spectrum of this rare entity (Table1)." @default.
• W3094490826 created "2020-10-29" @default.
• W3094490826 creator A5023651458 @default.
• W3094490826 creator A5025672861 @default.
• W3094490826 creator A5030784848 @default.
• W3094490826 creator A5046074908 @default.
• W3094490826 date "2020-06-01" @default.
• W3094490826 modified "2023-09-27" @default.
• W3094490826 title "Expanding Clinical Spectrum of Female X-linked Lymphoproliferative Syndrome 2" @default.
• W3094490826 doi "https://doi.org/10.22541/au.159103642.24934912" @default.
• W3094490826 hasPublicationYear "2020" @default.
• W3094490826 type Work @default.
• W3094490826 sameAs 3094490826 @default.
• W3094490826 citedByCount "0" @default.
• W3094490826 crossrefType "posted-content" @default.
• W3094490826 hasAuthorship W3094490826A5023651458 @default.
• W3094490826 hasAuthorship W3094490826A5025672861 @default.
• W3094490826 hasAuthorship W3094490826A5030784848 @default.
• W3094490826 hasAuthorship W3094490826A5046074908 @default.
• W3094490826 hasBestOaLocation W30944908261 @default.
• W3094490826 hasConcept C126322002 @default.
• W3094490826 hasConcept C187212893 @default.
• W3094490826 hasConcept C194409129 @default.
• W3094490826 hasConcept C2779382419 @default.
• W3094490826 hasConcept C2780007613 @default.
• W3094490826 hasConcept C2780955771 @default.
• W3094490826 hasConcept C71924100 @default.
• W3094490826 hasConcept C90924648 @default.
• W3094490826 hasConceptScore W3094490826C126322002 @default.
• W3094490826 hasConceptScore W3094490826C187212893 @default.
• W3094490826 hasConceptScore W3094490826C194409129 @default.
• W3094490826 hasConceptScore W3094490826C2779382419 @default.
• W3094490826 hasConceptScore W3094490826C2780007613 @default.
• W3094490826 hasConceptScore W3094490826C2780955771 @default.
• W3094490826 hasConceptScore W3094490826C71924100 @default.
• W3094490826 hasConceptScore W3094490826C90924648 @default.
• W3094490826 hasLocation W30944908261 @default.
• W3094490826 hasLocation W30944908262 @default.
• W3094490826 hasOpenAccess W3094490826 @default.
• W3094490826 hasPrimaryLocation W30944908261 @default.
• W3094490826 hasRelatedWork W142584770 @default.
• W3094490826 hasRelatedWork W1999927079 @default.
• W3094490826 hasRelatedWork W2021977871 @default.
• W3094490826 hasRelatedWork W2101043481 @default.
• W3094490826 hasRelatedWork W2373663931 @default.
• W3094490826 hasRelatedWork W2409151694 @default.
• W3094490826 hasRelatedWork W2422476675 @default.
• W3094490826 hasRelatedWork W2556658508 @default.
• W3094490826 hasRelatedWork W2587009144 @default.
• W3094490826 hasRelatedWork W3023029350 @default.
• W3094490826 isParatext "false" @default.
• W3094490826 isRetracted "false" @default.
• W3094490826 magId "3094490826" @default.
• W3094490826 workType "article" @default.