A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia. [PDF]
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 +4 more sources
THE SITE OF SYNTHESIS OF THE 19S γ-GLOBULINS IN DYSGAMMAGLOBULINEMIA [PDF]
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-globulins.
André Cruchaud +4 more
semanticscholar +6 more sources
Immunoglobulin A Dysgammaglobulinemia Is Associated with Pediatric-Onset Obsessive-Compulsive Disorder. [PDF]
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 +4 more sources
Children with Tourette's Syndrome May Suffer Immunoglobulin A Dysgammaglobulinemia: Preliminary Report [PDF]
Postinfectious autoimmunity has been implicated in Tourette's syndrome and obsessive-compulsive disorder (TS/OCD), whereas increased frequency of upper respiratory tract infections (URTI) in TS/OCD patients suggests immune deficiency. We hypothesized that antineuronal antibodies may be elevated in patients (reflecting autoimmune processes), and levels ...
Ivana Kawiková +9 more
semanticscholar +4 more sources
The association between Kaposi's sarcoma and dysgammaglobulinemia [PDF]
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 ...
Eldad Ben‐Chetrit +2 more
semanticscholar +5 more sources
Antibody formation in dysgammaglobulinemia. [PDF]
Gerald J. Gleich +3 more
semanticscholar +5 more sources
Two patients with dysgammaglobulinemia had bacteremic infections due to nontypable Haemophilus influenzae. The regular use of counterimmunoelectrophoresis or the more careful use of existing agglutination techniques to serotype Haemophilus isolates may identify nontypable H.
Daniel M. Musher, Richard J. Wallace
semanticscholar +5 more sources
Acrodermatitis enteropathica with dysgammaglobulinemia [PDF]
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.
Owen M. Rennert +3 more
openalex +3 more sources
Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion [PDF]
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
Secondary Dysgammaglobulinemia in Children with Hematological Malignancies Treated with Targeted Therapies [PDF]
Targeted therapies have emerged as innovative treatments for patients whose disease does not respond to conventional chemotherapy, and their use has widely expanded in the field of pediatric hematologic malignancies in the last decade. While they carry the promise of improved disease control and survival and are currently investigated in first-line ...
Andreas H. Groll +2 more
openaire +3 more sources

