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
doaj +3 more sources
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
doaj +3 more sources
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
doaj +3 more sources
Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion [PDF]
Frontiers in Pediatrics, 2021 Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse.
Edna Venegas-Montoya +8 more
doaj +2 more sources
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
doaj +5 more sources
Acrodermatitis enteropathica with dysgammaglobulinemia [PDF]
Pediatric Research, 1971 In 1942 Danbolt and Closs described the association of diarrhea, eczematoid rash and alopecia. These physical findings constitute the triad essential for the diagnosis of this autosomal recessive disease. The demonstration of the efficacy of Diodoquin therapy in this otherwise fatal disease was by Dallaha and Lorincz in 1953.
O Rennert +3 more
openaire +2 more sources
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
doaj +3 more sources
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
Davide Taietti +7 more
core +3 more sources
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia. [PDF]
Genes (Basel), 2022 Chear CT +9 more
europepmc +3 more sources
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
doaj +2 more sources