X-linked lymphoproliferative syndrome

(redirected from lymphoproliferative syndrome)

X-linked lymphoproliferative syndrome

an X-linked recessive immunodeficiency and lymphoproliferative disease caused by mutation in the SH2 domain protein 1A gene (SH2D1A) on Xq; characterized by defective cellular or humoral immune response to Epstein-Barr virus; manifestations include fulminant infectious mononucleosis, B-cell malignancies, and hypogammaglobulinemia.

X-linked lymphoproliferative syndrome

an X-linked recessive immunodeficiency and lymphoproliferative disease caused by mutation in the SH2 domain protein 1A gene (SH2D1A) on Xq; characterized by defective cellular or humoral immune response to Epstein-Barr virus; manifestations include fulminant infectious mononucleosis, B-cell malignancies, and hypogammaglobulinemia.

X-link·ed lym·pho·pro·lif·er·a·tive syn·drome

(lingkt lim'fō-prō-lif'ĕr-ă-tiv sin'drōm)
An X-linked recessive immunodeficiency and lymphoproliferative disease caused by mutation in the SH2 domain protein 1A gene (SH2D1A) on Xq; characterized by defective cellular or humoral immune response to Epstein-Barr virus; manifestations include fulminant infectious mononucleosis, B-cell malignancies, and hypogammaglobulinemia.
Synonym(s): Duncan disease.
References in periodicals archive ?
Fondaneche et al., "Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product," The Journal of Experimental Medicine, vol.
CD is a rare, heterogeneous lymphoproliferative syndrome. CD mainly occurs in young people between 15 and 35 years old, and there are no gender differences in the incidence of CD.[sup][1] The etiology of CD has not yet been identified, IL-6 and human herpes virus-8 may be associated factors.
This case described above is a difficult patient diagnosis in which the first clinical and imaging explorations (ultrasound and CT) guided toward a lymphoproliferative syndrome. However, when 18F-FDG PET/CT was performed, the tracer extranodal distribution was not expected in this diagnosis.
Autoimmune lymphoproliferative syndrome (ALPS) is caused by the defect of Fas-mediated apoptosis and characterized by nonmalignant autoimmunity lymphoproliferation with massive accumulation of lymphocytes and resulting in splenomegaly and lymphoadenopathy [9,10].
Miller et al., "The frequency of epstein-barr virus infection and associated lymphoproliferative syndrome after transplantation and its manifestations in children," Transplantation, vol.
The most common diseases showing findings of autoimmunity included immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (16.7%); autoimmune lymphoproliferative syndrome (10%); lipopolysaccharide-responsive beige-like anchor protein deficiency (10%); and DiGeorge syndrome (10%).
SHML has been found to occur concomitantly with other diseases such as diffuse large B-cell lymphoma, [1] HIV infection, [2] varicella zoster infection and autoimmune lymphoproliferative syndrome. [7] Delacretaz et al.
Title: Post-Renal Transplant Lymphoproliferative Syndrome with Unique Lesion in Central Nervous System Treated with Radiotherapy: A Case Report and Literature Review
Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related disorders.
However, because of the relatively recent recognition of this spectrum, many names have been ascribed, including IgG4-related systemic disease, IgG4-related sclerosing disease, systemic IgG4 plasmacytic syndrome, and IgG4-related multiorgan lymphoproliferative syndrome. (1,3) In 2010, the Umehara group in Japan reached a consensus to refer to this entity as IgG4-related disease in an effort to unify our understanding of the entity and its involvement with various sites in the body.
He was just six when La Garde first tricked her factory worker husband into believing their son had been diagnosed with potentially fatal auto-immune lymphoproliferative syndrome - a serious and debilitating blood disorder.