Manifestations of X-linked lymphoproliferative disease without prior Epstein-Barr virus exposure

Schuster, Volker; Steppberger, K.; Borte, Michael

doi:10.1182/blood.v98.6.1986

Cited by 7 publications

(2 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Х-сцепленный лимфопролиферативный синдром (ХЛП) -наследственный иммунодефицит, характеризующийся тяжелой иммунной дисрегуляцией и атипичной реакцией на заражение вирусом Эпштейна -Барр (ВЭБ), часто приводит к гемофагоцитарному лимфогистиоцитозу (ГЛГ), дисгаммаглобулинемии и аутоиммунной патологии [1,2]. Инфициро вание ВЭБ не является обязательным для начала ХЛП [3]. Существуют 3 типа ХЛП, отличием ХЛП 2-го типа от ХЛП 1-го типа является частота развития геморрагического колита, клинически и гистологически напоминающего воспалительные заболевания кишечника (ВЗК) [4].…”

Section: обоснованиеunclassified

Clinical Case of X-Linked Lymphoproliferative Syndrome Burdened with Hemophagocytic Lymphohistiocytosis and Crohn's Disease

Matros

Karitskaya

2023

Pediatr. farmakol.

View full text Add to dashboard Cite

Background. X-linked lymphoproliferative (XLP) syndrome is hereditary disease with the incidence of 1-3 per 1 million born boys. This clinical case demonstrates a rare picture of XLP type 2 manifestation without prior Epstein-Barr virus.Clinical case description. Boy D., 15 years old, was admitted to Morozovskaya Children's City Hospital with complaints on fever, abdominal pain, loose stools, weight loss. The past medical history included hemophagocytic syndrome (remission) and acute erythema nodosum. We have performed several studies: abdominal ultrasound (hepatomegaly, dynamic changes in the intestine: parts of the small intestine were enlarged and walls were thickened, mass peristalsis, walls of transverse colon and descending colon are thickened up to 5 mm, mesenteric lymphadenopathy), rectosigmoidoscopy (high-activity ulcerative proctosigmoiditis corresponds to Crohn's disease), biochemical and clinical blood tests (active hemophagocytic syndrome), coagulogram (secondary hypocoagulation), myelogram (no data on hemoblastosis or aplastic condition). Virological blood tests (CMV, EBV, HHV-VI): negative. Laboratory and instrumental tests have revealed recurrence of hemophagocytic syndrome and Crohn's disease. The child was consulted by rheumatologist, hematologist, gastroenterologist, geneticist, neurologist, and clinical pharmacologist. The primary immune deficiency disease was suspected in this patient due to his medical history. Molecular genetic study was performed (deletion including the XIAP gene was revealed) and the diagnosis of primary immune deficiency was verified: X-linked lymphoproliferative syndrome type 2. Thus, allogeneic haematopoietic stem cell transplantation (HSCT) was performed.Conclusion. XLP diagnosis and management require multidisciplinary approach. The early diagnosis is crucial due to the high risk of secondary complications development that can significantly worsen the disease's prognosis. Allogeneic HSCT is the only effective treatment for the disease.

show abstract

Section: обоснованиеunclassified

Clinical Case of X-Linked Lymphoproliferative Syndrome Burdened with Hemophagocytic Lymphohistiocytosis and Crohn's Disease

Matros

Karitskaya

2023

Pediatr. farmakol.

View full text Add to dashboard Cite

show abstract

“…XLP patients who survive primary EBV infection are at increased risk to develop B cell lymphomas and progressive hypogammaglobulinemia. Interestingly, some XLP patients develop these latter features without evidence of prior EBV exposure [6][7][8][9]. Thus, the immunologic defect in XLP involves more generalized disruptions of lymphocyte function and homeostasis that extend beyond infection with EBV.…”

Section: Introductionmentioning

confidence: 99%

X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses

et al. 2008

View full text Add to dashboard Cite

A major focus of our research is to understand the molecular and cellular basis of X-linked lymphoproliferative disease (XLP), a rare and often fatal immunodeficiency caused by mutations in the SH2D1A gene, which encodes the adaptor molecule SAP. Recently, we observed that SAP is essential for the development of natural killer T (NKT) cells, a lymphocyte population that participates in protection against certain tumors, infections, and autoimmune states. In this review, we describe the approaches that we are taking to understand the role of SAP in immune cells, including NKT cells. By using SAP as the focal point of our studies, we hope to identify novel signaling pathways that could be targeted to improve the treatment for patients with XLP as well as more common disorders, such as autoimmunity and cancer.

show abstract

Common Presentations and Diagnostic Approaches

Rezaei

Vries

Gambineri

et al. 2014

Stiehm's Immune Deficiencies

View full text Add to dashboard Cite

Manifestations of X-linked lymphoproliferative disease without prior Epstein-Barr virus exposure

Cited by 7 publications

References 4 publications

Clinical Case of X-Linked Lymphoproliferative Syndrome Burdened with Hemophagocytic Lymphohistiocytosis and Crohn's Disease

Clinical Case of X-Linked Lymphoproliferative Syndrome Burdened with Hemophagocytic Lymphohistiocytosis and Crohn's Disease

X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses

Common Presentations and Diagnostic Approaches

Contact Info

Product

Resources

About