A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia. [PDF]
Genes (Basel), 2022 Background: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of genetic disorders affecting immune function. In this report, a 17-month-old Malay patient suspected of having Hyper IgM syndrome, a type of IEIs, was described. However,
Chear CT +9 more
europepmc +2 more sources
Antibody formation in dysgammaglobulinemia. [PDF]
Journal of Clinical Investigation, 1966 J W Uhr, J H Vaughan
exaly +4 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
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 +2 more sources
Immunoglobulin A Dysgammaglobulinemia Is Associated with Pediatric-Onset Obsessive-Compulsive Disorder. [PDF]
J Child Adolesc Psychopharmacol, 2019 Background: Inflammation and immune dysregulation have been implicated in the pathogenesis of pediatric-onset obsessive-compulsive disorder (OCD) and tic disorders such as Tourette syndrome (TS).
Williams K +6 more
europepmc +2 more sources
THE SITE OF SYNTHESIS OF THE 19S γ-GLOBULINS IN DYSGAMMAGLOBULINEMIA
Journal of Experimental Medicine, 1962 Lymph nodes and splenic tissue from patients with congenital agammaglobulinemia and dysgammaglobulinemia and from normal subjects were studied with the use of immunofluorescence and histochemical stains to determine the site of synthesis of the 19S γ1 ...
, C A Janeway, Janeway Charles A
exaly +2 more sources
The association between Kaposi's sarcoma and dysgammaglobulinemia [PDF]
Cancer, 1982 The case of a patient with Kaposi's sarcoma and paraproteinemia is described and the relevant literature is reviewed. It is suggested that Kaposi's sarcoma is part of the spectrum of the lymphoproliferative diseases, and that both the marked angiogenesis and the synthesis of paraproteins in this disease are different expressions of the same ...
E. Ben-Chetrit, D. Ben-Amitai, Y. Levo
semanticscholar +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
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.
A. D. De Smet, D. Tubergen, W. Martel
semanticscholar +3 more sources
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. [PDF]
PLoS ONE, 2017 X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia.
Jun-Yu Zhang +9 more
doaj +1 more source