Search

There is evidence for premature atherosclerosis and systemic arterial stiffening during follow-up of children with Kawasaki disease (KD) and coronary artery abnormalities (CAA). Moreover, patients with KD may also have subclinical myocardial involvement and inhomogeneous ventricular repolarization. The inhomogeneous ventricular repolarization manifests as increased QT dispersion on electrocardiography. There is a paucity of studies in endothelial dysfunction and QT dispersion in children with KD and transient CAA. Twenty children with KD and transient CAA were studied at least 1 year after resolution of CAA. Mean follow-up period between KD onset and enrolment in the study was 53.7 months. Twenty age and sex-matched controls were enrolled. High-resolution B-mode ultrasonography was used to analyze brachial artery dilatation in response to reactive hyperemia (cases and controls) and sublingual nitroglycerine (cases only). Carotid artery intima-media thickness (cIMT) and stiffness index were calculated. The difference between maximum and minimum QTc intervals on 12 lead electrocardiogram was calculated as QTc dispersion (QTcd). No statistically significant difference was noted in percent flow-mediated dilatation of brachial arteries in response to reactive hyperemia between cases (13.31 ± 10.41%) and controls (12.86 ± 7.09%). Sublingual nitroglycerine-mediated dilatation in children with KD was 14.88 ± 12.03%. Mean cIMT was similar in cases (0.036 ± 0.015 cm) and controls (0.035 ± 0.076 cm; p = 0.791). No statistically significant difference between groups was observed in mean QTcd values (0.057 ± 0.018 s vs. 0.059 ± 0.015 s in controls, p = 0.785). No evidence of significant endothelial dysfunction or increased QT dispersion in patients with KD and transient coronary artery abnormalities was found in our cohort when studied at a mean follow-up of 53.7 months. This is reassuring, and indicates that risk of subclinical atherosclerosis and myocarditis in a subset of children with KD and transient coronary artery abnormalities is not significant. [ABSTRACT FROM AUTHOR]

Interferon alpha may be used in patients with I IFN- R1 i defect to control mycobacterium infection. Disseminated Mycobacterium fortuitum infection in a young girl with IFN- R1 defect masquerading as histiocytosis Histiocytic presentation of MSMD has rarely been reported in the literature in patients with both I IL-12R 1 i and I IFN- R1 i defects.[[3]] Environmental nontuberculous mycobacteria are one of the signature organisms associated with MSMD. [Extracted from the article]

Objective Precise evaluation of coronary artery abnormalities (CAAs) in Kawasaki disease (KD) is essential. The aim of this study is to determine role of CT coronary angiography (CTCA) for detection of CAAs in distal segments of coronary arteries in patients with KD. Methods CTCA findings of KD patients with distal coronary artery involvement were compared with those on transthoracic echocardiography (TTE) during the period 2013–21. Results Among 176 patients with KD who underwent CTCA (128-Slice Dual Source scanner), 23 (13.06%) had distal CAAs (right coronary—15/23; left anterior descending—14/23; left circumflex—4/23 patients). CTCA identified 60 aneurysms—37 proximal (36 fusiform; 1 saccular) and 23 distal (17 fusiform; 6 saccular); 11 patients with proximal aneurysms had distal contiguous extension; 9 patients showed non-contiguous aneurysms in both proximal and distal segments; 4 patients showed distal segment aneurysms in absence of proximal involvement of same coronary artery; 4 patients had isolated distal CAAs. On TTE, only 40 aneurysms could be identified. Further, distal CAAs could not be identified on TTE. CTCA also identified complications (thrombosis, mural calcification and stenosis) that were missed on TTE. Conclusions CAAs can, at times, occur in distal segments in isolation and also in association with, or extension of, proximal CAAs. CTCA demonstrates CAAs in distal segments of coronary arteries, including branches, in a significant number of children with KD—these cannot be detected on TTE. CTCA may therefore be considered as a complimentary imaging modality in children with KD who have CAAs on TTE. [ABSTRACT FROM AUTHOR]

Recurrent Achromobacter xylosoxidans bacteremia associated with persistent lymph node infection in a patient with hyper-immunoglobulin M syndrome. We report a young male child with X-linked CGD who developed persistent pneumonia due to I Achromobacter xylosoxidans. i Reports of I Achromobacter i sp. infections in patients with an IEI are sparse. Conclusion Although I A. xylosoxidans i has mostly been reported in patients with nosocomial infections, cystic fibrosis, and secondary immunodeficiency; at times, it causes infections in patients with IEIs. Although none of the patients with IEI and I Achromobacter i infection have had a fatal outcome, mortality of about 15% has been documented in a subgroup of patients (neutropenia, age > 65 years with secondary immunodeficiency) [[27]-[29]]. [Extracted from the article]

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare familial arthropathy of childhood, commonly misdiagnosed as juvenile idiopathic arthritis. It is characterized by non-inflammatory arthropathy, coxa vara deformity, and sterile pericarditis. We describe two children with CACP syndrome who were referred to the rheumatology clinic for the suspicion of inflammatory arthritis. A literature search was carried out using PubMed/ Medline and Embase databases. English language reports of mutation-proven cases of CACP syndrome reported until 31 March 2020 were retrieved and analysed. Both the children had a delay in diagnosis (age at diagnosis- 12 and 13 years, respectively) and had received immunomodulatory therapy for suspected inflammatory arthritis. Presence of symmetrical arthropathy of large joints, camptodactyly, and normal inflammatory parameters are clues that indicated CACP syndrome. One child with a novel variant in PRG4 also had associated mitral valve prolapse and regurgitation. Both had severe constrictive pericarditis requiring pericardiectomy. On literature review, a total of 98 mutation-proven cases of CACP syndrome have been reported till date. Arthropathy in CACP syndrome mainly involves knees, wrists, ankles, and hips. Pericarditis is usually mild, however, can present rarely with severe symptoms requiring surgical intervention. CACP syndrome can closely mimic inflammatory arthritis and early clinical recognition is important to avoid misdiagnosis. Molecular confirmation is essential for early diagnosis and future genetic counselling for affected families. [ABSTRACT FROM AUTHOR]

Abbreviations SCID Severe combined immunodeficiency IEI Inborn errors of immunity TRAC T cell receptor alpha constant CT Computerized tomography FNAC Fine needle aspiration cytology SOLs Space occupying lesions EBV Epstein-Barr virus Supplementary Information Below is the link to the electronic supplementary material. Keywords: Severe combined immunodeficiency; Non-Hodgkin lymphoma; T cell receptor alpha constant gene; Rearrangements EN Severe combined immunodeficiency Non-Hodgkin lymphoma T cell receptor alpha constant gene Rearrangements 1395 1399 5 07/27/21 20210801 NES 210801 Luigi D. Notarangelo and Surjit Singh have contributed equally. Severe combined immunodeficiency, Non-Hodgkin lymphoma, Rearrangements, T cell receptor alpha constant gene Two forms of TCR are known: the heterodimer is expressed by the majority of T lymphocytes, whereas a minor subset of T cells express the TCR heterodimer. [Extracted from the article]

Kawasaki disease (KD) is associated with several musculoskeletal manifestations. Although arthritis has been reported to occur in 2.3-31% of children with KD, there is paucity of detailed studies on the subject. We report our experience on arthritis in children with KD. Data were collated from a review of records of patients diagnosed with KD and arthritis during the period January 1994-June 2019. Eight hundred sixty-five children (male:female 29:11) were diagnosed with KD during this period-of these, 40 (4.6%) had arthritis. Median day of diagnosis of KD was 17 days. Twenty-nine (72.5%), 8 (20%), and 3 (8.6%) children developed arthritis in acute, subacute, and convalescent phases of KD, respectively. Oligoarticular involvement was observed in 32 (80%) children and among these, 7 (20%) had monoarthritis. Predominant joints involved were knee (74.3%), ankle (40%), and hip (28.6%). Thirty-two children (80%) were treated with non-steroidal anti-inflammatory drugs (NSAIDs). Median duration of arthritis was 10 days (range, 2-180 days) with uneventful recovery in all cases. Three (7.5%) children had coronary artery ectasia which regressed on follow-up.Conclusion: Arthritis in KD is usually non-erosive, self-limiting, and responds well to a short course of NSAIDs.What is Known:• Arthritis has been reported to occur in 2.3-31% of children with KD.• Arthritis in KD is usually oligoarticular, non-erosive, and responds well to short course of non-steroidal anti-inflammatory drugs.What is New:• Children with KD and arthritis do not appear to be at increased risk of development of coronary artery abnormalities.• Arthritis in children with KD can result in diagnostic confusion, and diagnosis of KD may get delayed. [ABSTRACT FROM AUTHOR]

PCR products, thus obtained, contained a mixture of labeled I NCF1 i gene and I NCF1 i pseudogenes that differ by 2 bp in length (GTGT in I NCF1 i gene [198 bp long] and GT in its pseudogene [196 bp long]). Gene-scan shows two peaks in control (one each from pseudogene and wild-type gene) whereas index patient has only one peak of pseudogene. The I NCF1 i gene has 2 pseudogenes and the genetic defect likely develops because of a recombination event between the functional I NCF1 i gene and one of its pseudogenes that contains GT deletion. Gene to pseudogene ratio in the gene-scan was 2:4 in control and 0:6 in the index patient. [Extracted from the article]

Byline: Mounika. Endrakanti, Anupriya. Kaur, Inusha. Panigrahi, Vignesh. Pandiarajan Sir, We describe three children with intellectual disability (ID), whose cytogenetic testing revealed 47, XXX, chromosome 9 and 12 subtelomeric deletions [...]

A clinical possibility of incomplete Kawasaki disease (KD) was considered. 8822996 3 Petruni'c M, Drinkovi'c N, Stern-Padovan R, Mestrovi'c T, Lovri'c D. Thoracoabdominal and coronary arterial aneurysms in a young man with a history of Kawasaki disease. [Extracted from the article]

Familial hemophagocytic lymphohistiocytosis (HLH) is an inherited disorder characterized by systemic hyperinflammation caused by an uncontrolled immune response mediated by T -lymphocytes, natural killer (NK) cells, and macrophages. Most children with familial HLH present within first 2 years of life and can have fatal disease unless hematopoietic stem cell transplant (HSCT) is performed (1). However, few patients may have late presentation and prolonged survival. With increasing awareness and facilities to identify HLH these disorders are being identified beyond infancy (2–4). Clinical and laboratory features are often similar to other primary immune deficiency diseases and pose diagnostic challenges (4–6). We report two patients who presented beyond the first decade of life with HLH, granulomatous inflammation, hypogammaglobulinemia, reduced B cells and were diagnosed to have familial HLH type 5 due to defect in STXBP2 gene. [ABSTRACT FROM AUTHOR]

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare, autosomal recessive condition characterised by diaphyseal dysplasia of long bones with defective haematopoiesis. We describe 2 such cases with clinical and radiological evidence of GHDD. Molecular analysis revealed novel variants in TBXAS1 gene in both of them. Suspicion and confirmation of this entity is crucial in cases of refractory anemia with bony deformities, as the clinical manifestations in this entity are usually well responsive to corticosteroids. [ABSTRACT FROM AUTHOR]

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA , encoding p22phox, NCF1 , encoding p47phox, NCF2 , encoding p67phox and NCF4 , encoding p40phox. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b 558 chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91phox (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article. [ABSTRACT FROM AUTHOR]