A blended phenotype of primary immunodeficiency and Temtamy syndrome: Dual homozygosity for STK4 and C12orf57 gene variants in a Tunisian infant.
We report a 6-month-old male, born to consanguineous parents, presented with recurrent bronchopneumonia, global developmental delay, and craniofacial dysmorphism. Initial workup revealed profound T-cell lymphopenia and hypoplasia of the splenium of the corpus callosum. Whole exome sequencing (WES) i…
TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT.
Tetratricopeptide repeat domain 7A (TTC7A) deficiency is a primary immunodeficiency due to mutations in the TTC7A gene. It causes intestinal disease and a poorly characterized immunodeficiency, with poor long-term survival. We describe the clinical and immunological characteristics, management, and…
Cholangiocarcinoma in a 33-year-old male with CD40L deficiency and pre-papillary bile duct stenosis.
X-linked hyper IgM-syndrome caused by CD40L deficiency is a rare primary immunodeficiency. Affected male individuals who reach adulthood often develop sclerosing cholangitis. Here, we report the case of a 33-year-old patient with long-standing solitary pre-papillary bile duct stenosis but without fu…
Global Prevalence of Celiac Disease and Clinical Characteristics in the General Population: A Systematic Review and Meta-analysis.
Celiac disease (CeD) is a global issue, with its burden detailed in a systematic review almost 8 years ago. Since then, new studies have emerged, prompting an update on prevalence estimates. We also aimed to characterize clinical features and assess how diagnostic methods influence detection rates.…
The SMART-Youth study: protocol for a longitudinal prospective cohort study to identify disease-associated and lifestyle-associated cardiovascular risk factors for preclinical atherosclerosis in children with a chronic condition.
Cardiovascular risk assessment and management in the paediatric population is a relatively uncharted territory. However, atherogenesis starts during childhood, making childhood and adolescence an important window of opportunity to prevent atherosclerotic cardiovascular disease (ASCVD) later in life.…
Gastrointestinal manifestations of common variable immunodeficiency: what a gastroenterologist needs to be aware of.
Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency disorder and, given its predilection to affect the gastrointestinal (GI) tract, will be encountered in the practice of a general gastroenterologist, as well as those with more focused interests.…
Systematic and proactive evaluation of AIRE missense variant effects.
Pathogenic variants in the autoimmune regulator (AIRE) cause autoimmune polyendocrine syndrome type 1 (APS-1), a rare primary immunodeficiency disease with symptoms including hypoparathyroidism, adrenal insufficiency, and chronic mucocutaneous candidiasis. AIRE increases the expression and presentat…