Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement [PDF]
, 2014 Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients
AA Bousfiha +55 more
core +26 more sources
Identical Twins with a Mutation in the STK4 Gene Showing Clinical Manifestations of the Mutation at Different Ages: A Case Report [PDF]
Iranian Journal of Immunology, 2020 Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a ...
Farhad Abolnezhadian +2 more
doaj +1 more source
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Blood, 2021 SAM and SH3 domain-containing 3 (SASH3), also called SH3-containing Lymphocyte Protein (SLY1) is a putative adaptor protein that is postulated to play an important role in the organization of signaling complexes and propagation of signal transduction ...
O. Delmonte +34 more
semanticscholar +1 more source
Frontiers in Cellular and Infection Microbiology, 2021 ObjectiveThis study presents a relatively rare case of disseminated Talaromyces marneffei (T. marneffei) infection in an HIV-negative patient.MethodsAn 8-month-old girl was hospitalized because of uncontrollable fever and cough for 6 days.
Xiaofang Ding +7 more
doaj +1 more source
Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report. [PDF]
CureusKrasnanska G +4 more
europepmc +3 more sources
A case report of Omenn syndrome in siblings
Journal of Education, Health and Sport, 2019 The article describes a case of Omenn syndrome in neonatal period. Omenn syndrome was diagnosed in two of three children of the same parents. Both of children had skin erythroderma since birth and eosynophilia in blood tests.
Agnieszka Berendt +3 more
doaj +3 more sources
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
A gp41 MPER-specific llama VHH requires a hydrophobic CDR3 for neutralization but not for antigen recognition [PDF]
, 2013 The membrane proximal external region (MPER) of the HIV-1 glycoprotein gp41 is targeted by the broadly neutralizing antibodies 2F5 and 4E10. To date, no immunization regimen in animals or humans has produced HIV-1 neutralizing MPER-specific antibodies ...
Aasa-Chapman, Marlén M. I. +23 more
core +14 more sources
X-Linked Severe Combined Immunodeficiency
Definitions, 2020 X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells ...
Larry W. Moreland
semanticscholar +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