RESUMEN
PURPOSE: Inherited deficiencies of CD40 and CD40 ligand (CD40L) reflect the crucial immunological functions of CD40-CD40L interaction/signaling. Although numerous studies have provided a detailed description of CD40L deficiency, reports of CD40 deficiency are scarce. Herein, we describe the characteristics of all reported patients with CD40 deficiency. METHODS: The PubMed, Embase and Web of Science databases were searched for relevant literature published till 7th August 2023. Study deduplication and identification of relevant reports was performed using the online PICO Portal. The data were extracted using a pre-designed data extraction form and the SPSS software was used for analysis. RESULTS: Systematic literature review revealed 40 unique patients with CD40 deficiency. Respiratory tract and gastrointestinal infections were the predominant clinical manifestations (observed in 93% and 57% patients, respectively). Sclerosing cholangitis has been reported in nearly one-third of patients. Cryptosporidium sp. (29%) and Pneumocystis jirovecii (21%) were the most common microbes identified. Very low to undetectable IgG levels and severely reduced/absent switch memory B cells were observed in all patients tested/reported. Elevated IgM levels were observed in 69% patients. Overall, splice-site and missense variants were the most common (36% and 32%, respectively) molecular defects identified. All patients were managed with immunoglobulin replacement therapy and antimicrobial prophylaxis was utilized in a subset. Hematopoietic stem cell transplantation (HSCT) has been performed in 45% patients (curative outcome observed in 73% of these patients). Overall, a fatal outcome was reported in 21% patients. CONCLUSIONS: We provide a comprehensive description of all important aspects of CD40 deficiency. HSCT is a promising curative treatment option for CD40 deficiency.
Asunto(s)
Criptosporidiosis , Cryptosporidium , Síndrome de Inmunodeficiencia con Hiper-IgM , Síndromes de Inmunodeficiencia , Linfopenia , Humanos , Ligando de CD40/genética , Síndrome de Inmunodeficiencia con Hiper-IgM/genética , Síndromes de Inmunodeficiencia/genética , Antígenos CD40/genética , Inmunoglobulina MRESUMEN
Pediatric acute kidney injury (pAKI) is a common complication associated with high mortality in children. The objective of this study was to determine the incidence of acute kidney injury (AKI) and mortality in hospitalized (critically ill and non-critically ill) patients. This was a retrospective study conducted during the period of June 1, 2013, to May 31, 2014, at the Postgraduate Department of Pediatrics, G. B. Pant Hospital, an Associated Hospital of Government Medical College, Srinagar, Jammu and Kashmir, India. All patients between the ages of one month and 18 years were included in the study, who had AKI. In general, out of 23,794 patients, 197 developed AKI (0.8%). On subgroup analysis, 2460 were critically ill and had Intensive Care Unit (ICU) admission among whom 99 developed AKI (4%), whereas 21,334 had general pediatric ward admissions and 98 developed AKI (0.5%). Infantile age group was the most commonly 91 (46.2%) affected. The common causes of AKI were renal in 73 (37%), neurologic in 38 (19%), septicemia in 35 (18%), and inborn errors of metabolism in 30 (15.2%). Out of 197 pAKI patients, 42 (21.3%) died and all of them were critically sick (ICU admissions). The incidence of pAKI in general was 0.8%, whereas it was 4% in critically ill children and 0.5% in general ward admissions implying an eight-fold increased risk of pAKI in critically ill patients.
