Autosomal dominant hyper IgE syndrome (AD‐HIES) is a primary immunodeficiency caused by loss‐of‐function (LOF) mutations in the Signal Transducer and Activator of Transcription 3 (STAT3) gene. In ...these patients, performing a correct differential diagnosis of pulmonary infections is difficult and challenging, as they usually have atypical presentations. However, establishing a correct diagnostic and therapeutic approach is essential, as pulmonary complications are responsible for high morbidity and mortality rates in these patients. We report the case of a teenage girl with AD‐HIES and respiratory symptoms and fever in whom performing a correct differential diagnosis was challenging.
The term Mycoplasma pneumoniae–induced rash and mucositis (MIRM) was recently proposed to identify the mucocutaneous condition secondary to M. pneumoniae infection that had historically been regarded ...among the more confusing pathologies of erythema multiforme and Stevens–Johnson syndrome. Based on a number of previous reports, these syndromes require differentiation since they have different prognoses and specific treatment requirements. We report a case of oral and genital erosions that strongly resembled MIRM without rash but were found to be secondary to a Chlamydia pneumoniae infection. After a thorough review of the literature on this subject, we propose that C. pneumoniae should also be considered a potential causative agent of MIRM and that this term should be amended to include C. pneumoniae infection.
Objective
Respiratory tract infections are among the most common causes of morbidity and mortality worldwide. Acute bronchiolitis (AB) is the leading cause of hospital admission among infants. ...Clinical scores have proven to be inaccurate in predicting prognosis. Our aim was to build a score based on findings of lung ultrasound (LU) performed at admission, to stratify patients at risk of needing respiratory support (non‐invasive and invasive ventilation).
Study design
Prospective, multicenter study including infants <6 months of age admitted with AB. Point‐of‐care LU was performed on admission, and a score was calculated based on ultrasound findings (presence and localization of B lines, B line confluence and/or consolidations) and clinical data. Main outcome was need of respiratory support.
Results
A total of 145 patients were included in the study, with a median age of 1.7 months IQR: 1.2‐2.8, 47.6% were female. Mean duration of symptoms prior to admission was 3.1 days (SD 1.8). Fifty‐six patients (39%) required non‐invasive ventilation (NIV), 14 (9.7%) were transferred to PICU, and 3 needed invasive ventilation (3/145). Identification of at least one posterior consolidation >1 cm was the main factor associated to NIV (RR 4.4; CI95%1.8‐10.8) The LU score built according to the findings on admission showed an AUC: 0.845(CI95%:0.78‐0.91). A score ≥3.5 showed a sensitivity of 89.1% (CI95%:78.2‐94.9%) and specificity of 56% (CI95%: 45.3‐66.1%)
Conclusions
Among infants below 6 months of age admitted with AB, point‐of‐care LU was a helpful tool to identify patients at risk of needing respiratory support.
Background. DNA detection of human cytomegalovirus (hCMV) in cerebrospinal fluid (CSF) by polymerase chain reaction (PCR) is a marker of central nervous system (CNS) involvement in congenital hCMV ...infection (cCMV), but its prognostic value is unknown. Methods. A multicenter, retrospective study was performed using the Spanish Congenital Cytomegalovirus Infection Database (REDICCMV; http://www.cmvcongenito.es). Newborns with cCMV and a lumbar puncture performed were included and classified according to their hCMV-PCR in CSF result (positive/negative). Clinical characteristics, neuroimaging abnormalities, plasma viral load, and audiological and neurological outcomes of both groups were compared. Results. A total of 136 neonates were included in the study: 21 (15.4%) with positive CSF hCMV-PCR and 115 (84.6%) with negative results. Seventeen patients (81%) in the positive group were symptomatic at birth compared with 52.2% of infants in the negative group (odds ratio OR, 3.86; 95% confidence interval CI, 1.28–14.1; P = .01). Only 4 asymptomatic newborns (6.8%) had a positive CSF hCMV-PCR. There were no differences between groups regarding the rate of microcephaly, neuroimaging abnormalities, neurological sequelae at 6 months of age, or plasma viral load. Sensorineural hearing loss (SNHL) at birth was associated with a positive CSF hCMV-PCR result (OR, 3.49; 95% CI, 1.08–11.27; P = .04), although no association was found at 6 months of age. Conclusions. A positive hCMV-PCR result in CSF is associated with symptomatic cCMV and SNHL at birth. However, no differences in neuroimaging studies, plasma viral load, or outcomes at 6 months were found. These results suggest that hCMV-PCR in CSF may not be a useful prognostic marker in cCMV.
We report a 6-year-old girl with interleukin-12 receptor β-1 (IL-12Rβ1) deficiency due to a homozygous deletion (g.1019_1020delAC) affecting codon His-339 in exon nine 1, and a mycobacterial ...infection by M.genavense with intestinal and mesenteric involvement, diagnosed by PCR in small bowel biopsy, with negative cultures and no antimicrobial susceptibility data.
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