scholarly journals Disseminated Salmonellosis in a child with IL12Rß1 deficiency – Case report and review of literature.

2021 ◽  
Author(s):  
Rachna Shanbhag Mohite ◽  
Rajeshwari Kempireddygaripalli Gangulappa ◽  
Vidya Manur Narasimhamurthy ◽  
Sagar Bhattad
Keyword(s):  
Past History ◽  
Genetic Disorders ◽  
Interferon Γ ◽  
Lymph Node Biopsy ◽  
Low Grade ◽  
Homozygous Mutation ◽  
Review Of Literature ◽  
Mycobacterial Disease ◽  
Whole Exome ◽  
Granulomatous Lymphadenitis

Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a group of genetic disorders characterized by a defect in interferon γ (IFN γ)–mediated immunity, with predisposition to infections caused by atypical and low virulent mycobacteria and other intra-macrophagic organisms like Salmonella, Klebsiella, Listeria etc. A 10-year-old boy, second born of a consanguineously (third-degree) married Indian couple, presented with left inguinal and submandibular lymphadenopathy with low grade fever for 10 days. Past history was significant as the child had been unwell from infancy. At the age of 4 months and 5 years, he was diagnosed to have tubercular axillary lymphadenitis and was treated with anti-tubercular drugs on each occasion and he responded to the same. On examination, he had left submandibular and inguinal lymphadenopathy and mild splenomegaly. Chest radiograph showed enlarged mediastinal nodes. He underwent left inguinal lymph node biopsy that reported granulomatous lymphadenitis. However, culture from the biopsy showed a growth of Salmonella enterica sensitive to ceftriaxone. Genetic evaluation showed pathogenic homozygous mutation c.1791 + 2T > G in exon 15 of IL12Rß1 gene by whole exome sequencing. A diagnosis of Mendelian Susceptibility to Mycobacterial Disease (MSMD) was established and he was treated with intravenous ceftriaxone followed by oral cefixime. He responded promptly and lymphadenopathy resolved. He is currently being maintained on azithromycin prophylaxis. Children and adults presenting with disseminated infections with atypical mycobacteria and salmonella must be evaluated for MSMD. Disseminated salmonellosis is a peculiar manifestation in IL12Rß1 deficiency. A detailed review of literature on IL12RB1 deficiency was performed. Index case has been discussed in light of the previously published literature.

scholarly journals Persistent cervical lymphadenitis in a patient with prior thyroid cancer attributed to Kikuchi-Fujimoto disease

2018 ◽  
pp. bcr-2018-226457
Author(s):  
Roman Zuckerman ◽  
Louise Damiani ◽  
Hashem A Ayyad ◽  
Deborah R Alpert
Keyword(s):  
Thyroid Cancer ◽  
Lymph Node ◽  
Lupus Erythematosus ◽  
Cervical Lymphadenopathy ◽  
Needle Aspiration ◽  
Lymph Node Biopsy ◽  
Lymphoproliferative Disease ◽  
Low Grade ◽  
Cervical Lymphadenitis ◽  
Granulomatous Lymphadenitis

We describe a 50-year-old woman with a history of thyroid cancer who presented with bilateral cervical and submandibular lymphadenopathy, low-grade fevers, and increasing fatigue. The patient underwent lymph node fine-needle aspiration, which showed no evidence of metastatic or lymphoproliferative disease. This procedure was complicated by a parapharyngeal abscess and cellulitis. She was treated unsuccessfully with various courses of antibiotics, but briefly responded to short courses of steroids. As her cervical lymphadenopathy returned, she underwent an excisional lymph node biopsy, which demonstrated caseating granulomatous lymphadenitis. Extensive review of systems, physical examination, laboratory and imaging studies demonstrated no evidence of malignancy, infection or systemic lupus erythematosus . Our patient was clinically diagnosed with Kikuchi-Fujimoto disease and successfully treated with prednisone tapered over 3 months. She remains in clinical remission.

scholarly journals Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency

2021 ◽  
Author(s):  
Seyed Alireza Mahdaviani ◽  
Majid Marjani ◽  
Mahnaz Jamee ◽  
Armin Khavandegar ◽  
Hosseinali Ghaffaripour ◽  
...  
Keyword(s):  
Mycobacterium Bovis ◽  
Genetic Disorders ◽  
Homozygous Mutation ◽  
Bacillus Calmette Guerin ◽  
Mycobacterial Disease ◽  
Protein Losing Enteropathy ◽  
Environmental Mycobacteria ◽  
Weakly Virulent ◽  
Mycobacterium Simiae ◽  
Rare Group

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the case of a 4.5-yearold boy with protein-losing enteropathy, lymphoproliferation, and candidiasis, who was found to have disseminated Mycobacterium simiae infection. A homozygous mutation in the IL12B gene, c.527_528delCT (p.S176Cfs*12) was identified, responsible for the complete IL-12p40 deficiency. He was resistant to anti-mycobacterial treatment and finally died due to sepsis-related complications.

scholarly journals A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

2019 ◽  
Vol 08 (03) ◽  
pp. 168-171
Author(s):  
Evren Gumus
Keyword(s):  
Genetic Disorders ◽  
Genetic Diseases ◽  
Laboratory Data ◽  
Valuable Insight ◽  
Homozygous Mutation ◽  
Homozygous Variant ◽  
Whole Exome ◽  
Rare Genetic Diseases ◽  
Proc Gene ◽  
Autosomal Recessive Diseases

AbstractIn the present case report, we described a 6-year-old-boy with developmental delay, mental retardation, lack of speech, skin scars, and 2 to 3 toe syndactyly from healthy consanguineous Turkish parents. The whole exome sequencing (WES) analysis of this patient showed homozygous variant c.418T > C p.(Cys140Arg) in PROC gene and novel homozygous variant c.57dupC p.(Asn20Glnfs*2) in the DHCR7 gene. This finding demonstrated that WES is of great value for the diagnosis of two separate genetic disorders in a patient with multiple dysmorphic and other clinical features. It should also be kept in mind that the coexistence of two autosomal recessive diseases could be observed in highly related consanguineous marriages. The combined evaluation of clinical and laboratory data provided extremely valuable insight into the diagnosis of this unique case.

scholarly journals Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Miroslav Prucha ◽  
Hana Grombirikova ◽  
Pavel Zdrahal ◽  
Marketa Bloomfield ◽  
Zuzana Parackova ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Clinical Manifestations ◽  
Interferon Γ ◽  
Combination Regimen ◽  
Loss Of Function ◽  
Mycobacterial Disease ◽  
Adult Age ◽  
First Case ◽  
Whole Exome ◽  
Significant Clinical Improvement

We present a case of a 42-year-old woman with Mendelian susceptibility to mycobacterial disease. The disease was diagnosed at an adult age with relatively typical clinical manifestations; the skeleton, joints, and soft tissues were affected by nontuberculous mycobacteria: Mycobacterium lentiflavum, M. kansasii, and M. avium. A previously published loss-of-function and functionally validated variant NM_000416.2:c.819_822delTAAT in IFNGR1 in a heterozygous state was detected using whole-exome sequencing. After interferon-γ therapy was started at a dose of 200 µg/m2 three times a week, there was significant clinical improvement, with the need to continue the macrolide-based combination regimen. In the last 4 months, she has been in this therapy without the need for antibiotic treatment.

scholarly journals Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mohd Fareed ◽  
Vikas Makkar ◽  
Ravi Angral ◽  
Mohammad Afzal ◽  
Gurdarshan Singh
Keyword(s):  
Nephrotic Syndrome ◽  
Disease Management ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygous Mutation ◽  
Consanguineous Family ◽  
Clinical Prognosis ◽  
Whole Exome ◽  
Recurrent Mutations ◽  
Ckd Stage

AbstractNephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. Here, we used the whole-exome sequencing (WES) technology to decipher the genetic cause of nephrotic syndrome (CKD stage-V) in a large affected consanguineous family. Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP_079152.3:p.(Asp250Asn) in the 9th exon of the COQ8B gene, co-segregated well with the disease phenotype. Our study provides the first insight into this homozygous condition, which has not been previously reported in 1000Genome, ClinVar, ExAC, and genomAD databases. In addition to the pathogenic COQ8B variant, the WES data also revealed some novel and recurrent mutations in the GLA, NUP107, COQ2, COQ6, COQ7 and COQ9 genes. The novel variants observed in this study have been submitted to the ClinVar database and are publicly available online with the accessions: SCV001451361.1, SCV001451725.1 and SCV001451724.1. Based on the patient's clinical history and genomic data with in silico validation, we conclude that pathogenic mutation in the COQ8B gene was causing kidney failure in an autosomal recessive manner. We recommend WES technology for genetic testing in such a consanguineous family to not only prevent the future generation, but early detection can help in disease management and therapeutic interventions.

scholarly journals Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

2015 ◽  
Vol 104 (2) ◽  
pp. 286-291 ◽  
Author(s):  
Ranjith Ramasamy ◽  
M. Emre Bakırcıoğlu ◽  
Cenk Cengiz ◽  
Ender Karaca ◽  
Jason Scovell ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygous Mutation ◽  
Nonobstructive Azoospermia ◽  
Whole Exome

Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature

2021 ◽  
pp. 109352662110511
Author(s):  
Mukul Vij ◽  
Srinivas Sankaranarayanan
Keyword(s):  
Liver Transplantation ◽  
Liver Disease ◽  
Liver Biopsy ◽  
Intrahepatic Cholestasis ◽  
Cholestatic Liver Disease ◽  
Review Of Literature ◽  
Biallelic Mutation ◽  
Whole Exome ◽  
Sequencing Studies ◽  
Biallelic Mutations

Whole-exome sequencing studies have recently identified novel genes implicated in normal- or low-GGT pediatric cholestasis including ubiquitin-specific peptidase 53 ( USP53). We identified novel biallelic mutations in the USP53 gene in a 7-month-old infant with pruritus and progressive intrahepatic cholestasis. His liver biopsy showed portal and perivenular fibrosis with bland bilirubinostasis. His parents were asymptomatic heterozygous for the same mutation. He is currently on vitamin supplements and cholestyramine and his family has also been counseled for liver transplantation. Our report confirms that patients with biallelic mutation in USP53 develop cholestatic liver disease.

Rare sacral extradural grade II ependymoma: a comprehensive review of literature

2021 ◽  
Vol 14 (11) ◽  
pp. e246540
Author(s):  
Ricardo J Fernández-de Thomas ◽  
Natalie Amaral-Nieves ◽  
Orlando De Jesus ◽  
Emil A Pastrana
Keyword(s):  
Treatment Guidelines ◽  
Myxopapillary Ependymoma ◽  
Low Grade ◽  
Review Of Literature ◽  
Total Resection ◽  
Comprehensive Review ◽  
Sacral Region ◽  
Rare Tumours ◽  
Grade Ii ◽  
Sacral Spinal Cord

Sacral spinal cord ependymoma is an uncommon pathology. Most of the reported cases are consistent with a myxopapillary ependymoma histopathologic subtype. Non-myxopapillary ependymomas rarely occur in the sacral region. Most lesions are intradural; however, rare extradural cases can occur. We present the case of a 46-year-old female patient diagnosed with a grade II sacral extradural ependymoma, emphasising the importance of an interdepartmental case approach for diagnosis and management. Even though grade II ependymomas are considered low grade, the potential for recurrence and metastatic disease has been reported. There are no treatment guidelines for these rare tumours besides gross total resection.

Analysis of Amplified Genes in Samples of Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma by CGH-Array Technique

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S51-S51
Author(s):  
Erika Egal ◽  
Welligton Sabino ◽  
João Scarini ◽  
Reydson Souza ◽  
Albina Altemani ◽  
...  
Keyword(s):  
Pleomorphic Adenoma ◽  
Malignant Transformation ◽  
Genetic Disorders ◽  
Benign Lesion ◽  
Carcinoma Ex Pleomorphic Adenoma ◽  
Low Grade ◽  
Cgh Array ◽  
Microsoft Excel ◽  
Histopathological Subtype ◽  
Common Target

Abstract Introduction Pleomorphic adenoma (PA) is a benign lesion of the salivary glands that can suffer malignant transformation to carcinoma ex adenoma pleomorphic (CXPA). The pathogenesis of CXPA has been attributed to the accumulation of genetic disorders in preexisting PAs. However, there is no confirmation whether there is a common target gene involved in all histopathological subtypes or the decisive factors for malignant transformation in a histopathological subtype are specific. Objectives To further analyze genes found in PA and CXPA using the CGH-array technique. The genes found were analyzed using the InteractiVenn virtual tool (http://www.interactivenn.net/) and grouped into a Microsoft Excel worksheet. Results: Of the 460 genes amplified in the studied samples, 287 (62.4%) were related only to CXPA, whereas 144 (31.3%) were related to residual PA. Twenty-nine (6.3%) of these genes were common between residual PA and CXPA. Regarding the degree of invasion of CXPA, there was an increase in the number of genes amplified as the degree of invasion and aggression increased: 8 genes related to intracapsular CXPA, 65 to minimally invasive CXPA, and 373 to weakly invasive. Moreover, when comparing residual AP and intracapsular CXPA, two genes were common to these groups: ERRB2 and GRB7. As for the histological subtype, the high-grade samples had more amplifications (320 amplified genes) than the low-grade ones (129 genes). Three of these genes were common among residual PAs and CXPA: HMGA2, RPSAP52, and LOC100129940. As for the replicates, MYNC, ERBB2, BRIP1, and HMGA2 were the most repeated amplified genes in the residual PAs. HMGA2, ERRBB2, CDK12, RPSAP52, LOC100129940, and LOC100507250 were the genes with the most replicates in CXPA. Conclusion HMGA2, ERRB2, and RPSAP52 may play a key role in PA carcinogenesis, whereas GRB7, CDK12, MYNC, and BRIP1 appear to act as coadjutants.

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