Results 21 to 30 of about 169,549 (137)
Frontiers in Immunology, 2020 Background: Zeta-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare combined immunodeficiency (CID) caused by recessive homozygous/compound heterozygous loss-of-function mutations in the ZAP70 gene.
Niusha Sharifinejad +16 more
doaj +1 more source
Severe combined immunodeficiency—an update
Annals of the New York Academy of Sciences, 2015 Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life‐threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency.
CIRILLO, EMILIA +8 more
openaire +3 more sources
Evaluation of the 10 Warning Signs in Primary and Secondary Immunodeficient Patients
Frontiers in Immunology, 2022 ObjectivesTen warning signs of primary immunodeficiency (PID) were suggested by the Jeffrey Modell Foundation (JMF), to increase physician awareness of PID. These warning signs have not yet been evaluated for patients with secondary immunodeficiency (SID)
Fadime Ceyda Eldeniz +5 more
doaj +1 more source
Clinical and Immunological Features of Human BCL10 Deficiency
Frontiers in Immunology, 2021 The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail ...
Blanca Garcia-Solis +35 more
doaj +1 more source
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1
Frontiers in Immunology, 2019 Adult-onset primary immunodeficiency is characterized by recurrent infections, hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have analyzed targeted gene panel sequencing results of 270 patients diagnosed with antibody ...
Claudia Schröder +20 more
doaj +1 more source
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency
Frontiers in Immunology, 2022 SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune dysregulation, associated with impaired TCR signaling and thymocyte survival in humans.
Moisés Labrador-Horrillo +26 more
doaj +1 more source
In-depth blood immune profiling of Good syndrome patients
Frontiers in Immunology, 2023 IntroductionGood syndrome (GS) is a rare adult-onset immunodeficiency first described in 1954. It is characterized by the coexistence of a thymoma and hypogammaglobulinemia, associated with an increased susceptibility to infections and autoimmunity.
Alba Torres-Valle +37 more
doaj +1 more source
Interleukin-2-Inducible T-Cell Kinase Deficiency—New Patients, New Insight?
Frontiers in Immunology, 2018 Patients with primary immunodeficiency can be prone to severe Epstein–Barr virus (EBV) associated immune dysregulation. Individuals with mutations in the interleukin-2-inducible T-cell kinase (ITK) gene experience Hodgkin and non-Hodgkin lymphoma, EBV ...
Sujal Ghosh +7 more
doaj +1 more source
Diagnosis of severe combined immunodeficiency [PDF]
Journal of Clinical Pathology, 2001 Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and ...
Gennery AR, Cant AJ
openaire +3 more sources
14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency
Frontiers in Immunology, 2017 BackgroundInducible co-stimulator (ICOS) deficiency was the first monogenic defect reported to cause common variable immunodeficiency (CVID)-like disease in 2003.
Johanna Schepp +12 more
doaj +1 more source