The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor [PDF]
Case Reports in Immunology, 2020 X-linked lymphoproliferative disease (XLP1) is a rare primary immunodeficiency characterized by EBV-triggered immune dysregulation, lymphoproliferation, dysgammaglobulinemia, and lymphoma.
Yike Jiang +6 more
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Exon skipping caused by a complex structural variation in SH2D1A resulted in X‐linked lymphoproliferative syndrome type 1 [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background X‐linked lymphoproliferative syndrome type 1 (XLP1) is a rare primary immunodeficiency disorder characterized by severe immune dysregulation often after viral infection. It is caused by hemizygous mutations in the X‐linked SH2D1A gene.
Liwen Wu +5 more
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Immune Dysfunction in Tourette Syndrome [PDF]
Behavioural Neurology, 2013 The association between immunity and neurodevelopmental disorders has been extensively investigated in autism, suggesting a potential involvement of both cellular and humoral immunity in the establishment of synaptic connectivity modulation during ...
Ishraga Elamin +2 more
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Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant [PDF]
La Pediatria Medica e Chirurgica, 2014 The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD).
A. Berio, G. Mangiante, A. Piazzi
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Lymphoplasmacyte-rich meningioma with hematologic signs and PD-L1 over-expression. [PDF]
Autops Case Rep, 2022 Lymphoplasmacyte-rich meningioma (LPRM) is one of the rarest variants of grade I meningiomas. It can be clinically associated with prominent peripheral blood abnormalities, anemia, and/or various gammopathy, which usually disappear after surgical removal
Gaggero G +7 more
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Genome Editing With TALEN, CRISPR-Cas9 and CRISPR-Cas12a in Combination With AAV6 Homology Donor Restores T Cell Function for XLP [PDF]
Frontiers in Genome Editing, 2022 X-linked lymphoproliferative disease is a rare inherited immune disorder, caused by mutations or deletions in the SH2D1A gene that encodes an intracellular adapter protein SAP (Slam-associated protein).
Benjamin C. Houghton +15 more
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Multifaceted roles of IKZF1 gene, perspectives from bench to bedside [PDF]
Frontiers in OncologyThe IKZF1 gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The protein product, IKAROS, had been proved to regulate lymphopoiesis. Subsequent mouse model studies have
Lin Feng, Hang Zhang, Ting Liu
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Nodular lymphoid hyperplasia of the colon associated with dysgammaglobulinemia [PDF]
American Journal of Roentgenology, 1976 A case of dysgammaglobulinemia associated with nodular lymphoid hyperplasia of the colon is reported. The patient had typical immunoglobulin deficiency, diarrhea, recurrent respiratory infections, Giardia lamblia in the stool, and lymphoid hyperplasia of the small intestine. His barium enema showed diffuse submucosal nodules.
D G Tubergen, A A De Smet, W Martel
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LYMPHOID HYPERPLASIA OF THE LARGE INTESTINE ASSOCIATED WITH DYSGAMMAGLOBULINEMIA [PDF]
American Journal of Roentgenology, 1970 A patient with dysgammaglobulinemia is reported who had hepatosplenomegaly, thrombocytopenia, and roentgenographic demonstration of nodularity of the large bowel subsequently proved to be due to nodular hyperplasia.The intimate relationship of the lymphoid and hematologic systems is discussed in order to explain the possible genesis of these findings ...
W. Krivit +3 more
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