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1.
BMJ Case Rep ; 14(1)2021 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-33431479

RESUMO

Here we present the case of a 37-year-old previously healthy man who developed fever, headache and a unilateral, painful neck swelling while working offshore. He had no known contact with anyone with COVID-19; however, due to the ongoing pandemic, a nasopharyngeal swab was performed, which was positive for the virus. After transfer to hospital for assessment his condition rapidly deteriorated, requiring admission to intensive care for COVID-19 myocarditis. One week after discharge he re-presented with unilateral facial nerve palsy. Our case highlights an atypical presentation of COVID-19 and the multifaceted clinical course of this still poorly understood disease.


Assuntos
Alcalose Respiratória/sangue , Paralisia de Bell/fisiopatologia , Miocardite/fisiopatologia , Adulto , Alcalose Respiratória/etiologia , Gasometria , Proteína C-Reativa/metabolismo , /terapia , Ecocardiografia , Edema/etiologia , Eletrocardiografia , Humanos , Hipotensão/etiologia , Hipotensão/fisiopatologia , Linfadenite/etiologia , Linfadenite/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Miocardite/sangue , Miocardite/diagnóstico por imagem , Miocardite/terapia , Peptídeo Natriurético Encefálico/sangue , Pescoço , Oxigenoterapia , Fragmentos de Peptídeos/sangue , Pró-Calcitonina/sangue , Recuperação de Função Fisiológica , Troponina T/sangue , Vasoconstritores/uso terapêutico
2.
J Korean Med Sci ; 34(46): e302, 2019 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-31779059

RESUMO

BACKGROUND: Nontuberculous mycobacteria (NTM) lymphadenitis is an under-recognized entity, and data of the true burden in children are limited. Without a high index of suspicion, diagnosis may be delayed and microbiological detection is challenging. Here, we report a cluster of NTM lymphadenitis experienced in Korean children. METHODS: Subjects under 19 years of age diagnosed with NTM lymphadenitis during November 2016-April 2017 and April 2018 were included. Electronic medical records were reviewed for clinical, laboratory and pathological findings. Information regarding underlying health conditions and environmental exposure factors was obtained through interview and questionnaires. RESULTS: A total of ten subjects were diagnosed during 18 months. All subjects were 8-15 years of age, previously healthy, male and had unilateral, nontender, cervicofacial lymphadenitis for more than 3 weeks with no significant systemic symptoms and no response to empirical antibiotics. Lymph nodes involved were submandibular (n = 8), preauricular (n = 6) and submental (n = 1). Five patients had two infected nodes and violaceous discoloration was seen in seven subjects. Biopsy specimens revealed chronic granulomatous inflammation and acid-fast bacteria culture identified Mycobacterium haemophilum in two cases and NTM polymerase chain reaction was positive in two cases. Survey revealed various common exposure sources. CONCLUSION: NTM lymphadenitis is rare but increasing in detection and it may occur in children and adolescents. Diagnosis requires high index of suspicion and communication between clinicians and the laboratory is essential for identification of NTM.


Assuntos
Linfadenite/diagnóstico , Infecções por Mycobacterium não Tuberculosas/patologia , Adolescente , Antibacterianos/uso terapêutico , Criança , Humanos , Linfadenite/tratamento farmacológico , Linfadenite/etiologia , Masculino , Infecções por Mycobacterium não Tuberculosas/complicações , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Mycobacterium haemophilum/genética , Mycobacterium haemophilum/isolamento & purificação , Micobactérias não Tuberculosas/genética , Micobactérias não Tuberculosas/isolamento & purificação , RNA Bacteriano/metabolismo
4.
Lakartidningen ; 1162019 Oct 29.
Artigo em Sueco | MEDLINE | ID: mdl-31661147

RESUMO

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is the most common autoinflammatory disorder among children in many parts of the world and an important differential diagnosis in children presenting with recurrent fever episodes. Commonly, PFAPA has an onset under the age of 5 years. Fever episodes in PFAPA usually last 3-6 days and are associated with one or more of the cardinal symptoms aphthous stomatitis, pharyngitis and cervical adenitis. The fever episodes typically recur with an interval of 3-6 weeks, often with a striking regularity. During the episodes, the patient has elevated inflammatory variables such as CRP and serum amyloid A (SAA) and may sometimes have additional symptoms such as abdominal pain, nausea and leg pain. Between the fever episodes, the patient is typically free of symptoms with normalized inflammatory variables and grows normally. Awareness and recognition of PFAPA is key to providing the patient with adequate treatment and avoiding misdiagnosis.


Assuntos
Doenças Hereditárias Autoinflamatórias/diagnóstico , Biomarcadores/sangue , Pré-Escolar , Diagnóstico Diferencial , Feminino , Febre/diagnóstico , Febre/tratamento farmacológico , Febre/etiologia , Doenças Hereditárias Autoinflamatórias/classificação , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Hereditárias Autoinflamatórias/tratamento farmacológico , Humanos , Inflamação/sangue , Linfadenite/diagnóstico , Linfadenite/tratamento farmacológico , Linfadenite/etiologia , Masculino , Faringite/diagnóstico , Faringite/tratamento farmacológico , Faringite/etiologia , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/tratamento farmacológico , Estomatite Aftosa/etiologia , Síndrome
6.
BMJ Case Rep ; 12(2)2019 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-30709892

RESUMO

A 8-year-old Irish ethnicity girl presented with 3 days of fever with right-sided neck swelling which was first thought as acute tonsillitis with right-sided lymphadenitis. She was started on intravenous antibiotics. At day 7 of illness, she was diagnosed to have Kawasaki disease with clinical and biochemical evidence. Echocardiogram at day 9 of illness and subsequently CT cardiac angiogram performed revealed giant aneurysm at the right coronary artery with non-obstructing thrombus seen. The patient then commenced on clopidogrel and continued with a regular dose of aspirin. Due to the evidence of thrombus with a giant coronary aneurysm, she was also put on long-term warfarin therapy with regular monitoring of her international normalised ratio to be kept at the range of 2.0-3.0.


Assuntos
Aneurisma Coronário/etiologia , Linfadenite/etiologia , Síndrome de Linfonodos Mucocutâneos/complicações , Trombose/etiologia , Criança , Aneurisma Coronário/diagnóstico , Aneurisma Coronário/patologia , Vasos Coronários/patologia , Diagnóstico Diferencial , Feminino , Humanos , Linfonodos/patologia , Linfadenite/diagnóstico , Linfadenite/patologia , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/patologia , Pescoço/patologia , Trombose/diagnóstico , Trombose/patologia , Tonsilite/diagnóstico
7.
Turk J Pediatr ; 61(3): 466-470, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31916732

RESUMO

Hassanzad M, Farnia P, Darougar S, Velayati AA. A novel evaluation of genetic polymorphism in BCG adenitis. Turk J Pediatr 2019; 61: 466-470. Bacillus Calmette-Guerin (BCG) is a live attenuated vaccine which has been used to prevent tuberculosis, according to the World Health Organization (WHO) recommendation in parts of the world with an incidence of tuberculosis infection more than 1%. The incidence of BCG adverse reactions differs between regions with regional lymphadenitis as the most common presentation. The aim of this study was to detect the impact of polymorphisms causing BCG lymphadenitis in children receiving BCG vaccination at birth. Eight healthy infants with BCG adenitis from 4 to 12 months old were enrolled. All these patients underwent a thorough physical examination, abdominopelvic ultrasound evaluation to detect distant lymphadenopathies and immunodeficiency screening tests for any possible underlying immunodeficiency disorders. Then genotyping for known mutations was performed using restriction fragments length polymorphism (PCR-RFLP) assays. Sequencing was performed for IL-12 Rß1, IFN-ϒ receptor 1, IL-10, TNF-α and P2X7. The mean age of onset of the adenitis was 6.5 months. TNF-857, IL-12Rß1 705, IL-10 1082, and IFN-ϒ- 56 single nucleotide polymorphisms (SNPs) were common in the children studied. The most frequent polymorphism found in the patients with BCG adenitis except one, was the P2X7 -762 polymorphism. To conclude, these polymorphisms are more common in some ethnic populations but not others and make the genetic basis of immunity to BCG strains and the occurrence of post-BCG lymphadenitis in otherwise healthy children.


Assuntos
Vacina BCG/efeitos adversos , Citocinas/genética , Linfadenite/genética , Polimorfismo Genético , Tuberculose/prevenção & controle , Vacinação/efeitos adversos , Citocinas/metabolismo , Feminino , Humanos , Lactente , Linfadenite/etiologia , Linfadenite/metabolismo , Masculino , Mutação , Tuberculose/diagnóstico , Ultrassonografia
8.
Medicine (Baltimore) ; 97(41): e12744, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30313080

RESUMO

RATIONALE: Lymphatic embolization is a minimally invasive treatment option for managing chyle leakage after nodal dissection in the neck. After the procedure, the embolic material may cause foreign body granulomatous lymphadenitis and can be a diagnostic challenge for radiologists because of sonographic similarity to metastatic lymph node. Herein, we describe a clinical case of granulomatous lymphadenitis due to embolic material mimicking nodal metastasis detected on ultrasonography (US) with cytologic findings in a patient with thyroid cancer who underwent lymphatic embolization to treat chyle leakage after total thyroidectomy and neck dissection. We also review the relevant literature regarding this disease with technical background of the procedure and suggest the importance of clinical suspicion in diagnosing the granulomatous lymphadenitis in patients with a history of lymphatic embolization. PATIENT CONCERNS: A 40-year-old man who underwent total thyroidectomy and bilateral modified radical neck dissection due to papillary thyroid carcinoma had suspicious cervical lymph node on US after lymphatic embolization of chyle leakage. DIAGNOSES: The suspicious cervical lymph node proved to be foreign body granulomatous lymphadenitis due to embolic material by US-guided fine-needle aspiration. INTERVENTIONS: The patient did not undergone additional surgery because the pathologic cervical lymph node was confirmed to be foreign body granulomatous lymphadenitis. OUTCOMES: The patient is being followed up regularly at the outpatient department. LESSONS: Clinical awareness of the technical background of lymphatic embolization and possible sonographic features of granulomatous lymphadenitis is important for an accurate diagnosis and the appropriate management in patients who underwent lymphatic embolization.


Assuntos
Embolização Terapêutica/efeitos adversos , Doença Granulomatosa Crônica/diagnóstico , Linfadenite/diagnóstico , Linfadenopatia/diagnóstico , Doenças Linfáticas/terapia , Complicações Pós-Operatórias/terapia , Adulto , Carcinoma Papilar/complicações , Carcinoma Papilar/cirurgia , Quilo , Diagnóstico Diferencial , Doença Granulomatosa Crônica/etiologia , Humanos , Linfonodos/diagnóstico por imagem , Linfadenite/etiologia , Linfadenopatia/etiologia , Doenças Linfáticas/diagnóstico por imagem , Doenças Linfáticas/etiologia , Masculino , Esvaziamento Cervical/efeitos adversos , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos
9.
Cir. pediátr ; 31(4): 171-175, oct. 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-172930

RESUMO

Objetivos: Describir nuestra experiencia en el manejo de la linfadenitis por micobacterias no tuberculosas (LMNT). Material y métodos: Análisis retrospectivo de 65 pacientes (26 varones/ 39 mujeres) intervenidos en nuestro centro de LMNT durante los años 2010-2017. Se analizaron datos demográficos, pruebas complementarias realizadas y datos de seguimiento. Resultados: La edad media fue de 31 meses (rango 7 meses-12 años). Para el diagnóstico la radiografía de tórax se realizó al 92,3% de pacientes, siendo en todos normal. El Mantoux fue positivo en 20,3%, dudoso en 12,5% y negativo en 67,1%. La PAAF preoperatoria fue diagnóstica (linfadenitis granulomatosa necrotizante) en 93,7% mientras que el cultivo para micobacterias fue positivo solo en 23,4%, siendo el Mycobacterium lentiflavum el patógeno más frecuentemente encontrado. El tiempo de espera preoperatorio fue de 2,5 meses con un porcentaje de fistulización previo a la cirugía de 7,7%. La estancia hospitalaria media fue 1,1 días y no hubo complicaciones perioperatorias. El tiempo medio de seguimiento fue 5,5 meses (rango 1-24 meses) observándose 19 casos de parálisis facial temporal, de los cuales 2 persistieron al cabo de 1 año. Conclusiones: La LMNT es una enfermedad cada vez más frecuente en nuestro medio. Es importante realizar un diagnóstico y tratamiento precoz, puesto que el tratamiento quirúrgico ha demostrado ser seguro y eficaz asociando baja tasa de complicaciones. Creemos que los protocolos actuales se deben revisar, debido a la escasa rentabilidad de algunas pruebas complementarias


Aim of study: to describe our experience in the management of non-tuberculosis mycobacterial lymphadenitits (NTML). Methods: Retrospective analysis of patients who underwent surgery for NTML in our centre during the period between 2010-2017. Demographic data, diagnostic tests, treatment and follow up information were recovered from medical records. Results: 65 patients (26 male/39 female) with a mean age of 31 months (range 7 months-12 years) were intervened during the period of study. As diagnostic tests, chest X-ray was performed in 92.3% of patients with normal result in all cases, Mantoux test was positive in 20.3%, inconclusive in 12.5% and negative in 67.1%. Preoperative fine needle aspiration was positive for NTML (granulomatous necrotizing lymphadenitis) in 93.7% whereas culture for mycobacteria was only positive in 23.4% of cases, being Mycobacterium lentiflavum the most frequent agent found. Mean preoperative waiting time was 2.5 months with 7.7% of fistulization previous to surgery. Mean hospital stay was 1,1 days and there were no intraoperative complications. Mean follow up time was 5.5 months (range 1-24 months) during which 19 cases of temporal facial paralysis were noted, among which only 2 persisted after one year. Conclusions: NTML is a disease with a growing incidence in our country. It is important to make an early diagnosis and surgical treatment in order to avoid complications, as surgery has demonstrated to be safe and effective, with a low rate of complications. We believe the actual protocols should be revised/checked due to low effectiveness of diagnostic tests


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Linfadenite/complicações , Linfadenite/diagnóstico , Linfadenite/cirurgia , Micobactérias não Tuberculosas/isolamento & purificação , Micobactérias não Tuberculosas/patogenicidade , Linfadenite/etiologia , Infecções por Mycobacterium não Tuberculosas/microbiologia , Radiografia Torácica/métodos , Estudos Retrospectivos , Espanha/epidemiologia , Biópsia por Agulha Fina/métodos
10.
BMJ Case Rep ; 20182018 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-29982178

RESUMO

A 28-year-old man presented to our clinic over the course of 3 weeks with symptoms that progressed from mild headaches to fever, fatigue, myalgia and an enlarged right preauricular lymph node with ipsilateral conjunctivitis and upper eyelid weakness. Our differential included Epstein Barr Virus/Cytomegalovirus mononucleosis, bacterial conjunctivitis and lymphoma. We evaluated with CBC, EBV IgM Ab, lactate dehydrogenase level and a CMV IgG Ab which were all within normal limits. During his third visit, we discovered our patient had been scratched by two stray kittens he had adopted 2 months prior. We confirmed the diagnosis with a positive Bartonella henselae IgG level and diagnosed him with cat scratch disease presenting as Parinaud's oculoglandular syndrome. He was treated with a 5-day course of Azithromycin 250 mg with definitive improvement.


Assuntos
Doença da Arranhadura de Gato/diagnóstico , Linfadenite/etiologia , Adulto , Animais , Antibacterianos/administração & dosagem , Azitromicina/administração & dosagem , Bartonella henselae/isolamento & purificação , Doença da Arranhadura de Gato/complicações , Doença da Arranhadura de Gato/tratamento farmacológico , Gatos , Conjuntivite Bacteriana/etiologia , Doenças do Nervo Facial/etiologia , Humanos , Linfadenite/diagnóstico por imagem , Masculino , Transtornos da Motilidade Ocular/etiologia , Tomografia Computadorizada por Raios X
11.
Vaccine ; 36(28): 4046-4053, 2018 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-29859799

RESUMO

BACKGROUND: Bacille Calmette-Guérin (BCG) vaccination at birth may cause mild and benign local adverse effects (AE). More serious AE are rarely reported. OBJECTIVE: To describe clinical features and outcomes of BCG (Tokyo-172 strain)-induce diseases (BCG-ID) that required medical attention at a tertiary care center in Bangkok, Thailand. METHOD: We retrospectively reviewed medical records from January 2007 to December 2016 that were selected by ICD-10 codes. The inclusion criteria were the patients under 3 years of age who developed lymphadenitis, osteitis, or disseminated infections of which BCG was a possible pathogen. Cases were classified into suspected (clinically compatible without laboratory confirmation), probable (suspected cases with M. tuberculosis complex identified), and confirmed BCG-ID (probable cases with molecular confirmation of M. bovis BCG strain). RESULTS: 95 children were identified; 57 (60.0%) were male, and the median age at presenting symptom was 3.5 (range: 0.6-28.7) months. Of these, 25 (26.3%) were suspected, 49 (51.6%) were probable, and 21 (22.1%) were confirmed BCG-ID. Overall, 87 (92%) children had regional lymphadenitis corresponding to the BCG site, 5 (5%) had osteitis, and 3 (3%) had disseminated BCG. Of those with lymphadenitis, average size was 2.2 (range 0.7-5) cm. in diameter and 53% (46/87) had pulmonary involvement. Five children with immunodeficiency; three had disseminated BCG and two had lymphadenitis. Eight (9.2%) patients with lymphadenitis underwent needle aspiration; 57 (65.5%) had surgical excision. All children with BCG osteitis underwent surgical intervention in combination with anti-tuberculosis treatment. One patient with osteitis experienced long-term leg length discrepancy. CONCLUSION: Regional lymphadenitis was the most common feature of BCG-ID requiring medical attention. That none of the BCG osteitis were immunocompromised hosts suggested the potential virulence of BCG in neonates. A systematic national surveillance and reporting system is needed to develop accurate estimates of population incidence and support development of effective vaccine policy.


Assuntos
Vacina BCG/administração & dosagem , Vacina BCG/efeitos adversos , Doença Iatrogênica , Tuberculose/etiologia , Tuberculose/patologia , Bacteriemia/etiologia , Bacteriemia/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Linfadenite/etiologia , Linfadenite/patologia , Masculino , Osteíte/etiologia , Osteíte/patologia , Estudos Retrospectivos , Centros de Atenção Terciária , Tailândia
12.
Eur J Pediatr ; 177(8): 1201-1206, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29799086

RESUMO

The etiology and pathogenesis of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome are unclear. We performed a case-control study to evaluate potential environmental or lifestyle factors associated with PFAPA morbidity. We enrolled 119 patients with PFAPA syndrome who had undergone tonsillectomy in Oulu University Hospital between 1987 and 2007. We recruited 230 controls, matched for sex, birth date, and place from the database of the Population Register Center of Finland. All the patients and controls completed a questionnaire regarding exposure to environmental triggers during early childhood. Maternal smoking was more common among PFAPA syndrome patients than controls (23 vs. 14%; P = 0.005). PFAPA patients had lower breastfeeding rates than controls (94 vs. 99%; P = 0.006). No other environmental factors were associated with PFAPA syndrome, except having an aquarium at home (P = 0.007). The patient group also used natural or herbal medicines more often than the controls (P = 0.01). CONCLUSION: Maternal smoking and lack of breastfeeding, known risk factors for common childhood infections, were more common in patients with PFAPA syndrome than in matched controls. Environmental factors may be important in the pathogenesis of PFAPA syndrome and should be evaluated in future studies. What is Known: • The pathogenesis and genetics of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome remain unsolved. • PFAPA syndrome has been shown to cluster in families. What is New: • Maternal smoking and lack of breastfeeding are more common in patients with PFAPA syndrome than in the controls. • Environmental risk factors may be important in the pathogenesis of the syndrome.


Assuntos
Febre/etiologia , Linfadenite/etiologia , Faringite/etiologia , Estomatite Aftosa/etiologia , Adolescente , Alimentação Artificial/efeitos adversos , Aleitamento Materno , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Fatores de Risco , Fumar/efeitos adversos , Síndrome
14.
Vet Pathol ; 55(2): 298-302, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29191132

RESUMO

A 9-year-old female mixed breed dog presented for an acute onset of anorexia, vomiting, and cough. Initial examination and diagnostics revealed a large multilobular cranial mediastinal mass with unidentified fungal organisms on cytology. The disease progressed in spite of therapy until the dog was euthanized 8 months later. Gross necropsy findings were a large multilobular intrathoracic mass, mild pleuritis, and generalized lymphadenopathy. Histologic evaluation showed granulomatous inflammation and necrosis with numerous 20- to 70-micron, periodic acid-Schiff- and Gomori methenamine silver-positive spherules effacing lymph node parenchyma, as well as severe inflammation within the midbrain. Endosporulation was a common finding, and large numbers of fungal hyphae were also present in affected areas. Ribosomal RNA gene sequencing found 100% identity to published sequences of Phanerochaete chrysosporium, the teleomorph form of Sporotrichum pruinosum. This is the first published report of disease caused by natural infection with this basidiomycete organism in animals.


Assuntos
Doenças do Cão/microbiologia , Linfadenite/veterinária , Sporothrix , Esporotricose/veterinária , Animais , Doenças do Cão/patologia , Cães , Feminino , Granuloma/veterinária , Linfadenite/etiologia , Linfadenite/microbiologia , Linfadenite/patologia , Necrose , Esporotricose/complicações , Esporotricose/patologia
18.
Int J Mycobacteriol ; 6(4): 336-343, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29171446

RESUMO

Sweet's syndrome is reportedly associated with preceding nontuberculous mycobacterial infections (NTMIs). Here, we report on a systemic Mycobacterium intracellulare infection in a patient on corticoid therapy for Sweet's syndrome. Literature searches show that 69.1% of patients with Sweet's syndrome and NTMIs developed this syndrome later than NTMIs and 89.3% of them developed during the clinical course of a rapidly growing mycobacterial infection. The residual cases were associated with slow-growing mycobacteria (14.3%), but only three cases of Mycobacterium avium complex (MAC) infections before the onset of Sweet's syndrome have been reported, and all of them were caused by disseminated MAC disease. One of these cases developed during corticoid therapy for Sweet's syndrome, while another case had underlying diabetes mellitus. Hence, the occurrence of systemic MAC disease may be an inevitable consequence of long-term steroid use and underlying diseases. Literature searches also show that cervical lymphadenitis was a predominant symptom in NTMIs (90.5%). The present case did not have cervical lymphadenitis although the previously reported MAC cases did experience it. Therefore, lymphadenitis from NTMIs may be related to the pathogenesis of Sweet's syndrome. Hence, should a patient have systemic infection without lymphadenitis, it will be more difficult to clinically confirm that MAC disease is a predisposing factor for Sweet's syndrome.


Assuntos
Glucocorticoides/efeitos adversos , Complexo Mycobacterium avium/fisiologia , Infecção por Mycobacterium avium-intracellulare/complicações , Síndrome de Sweet/etiologia , Linfócitos T Auxiliares-Indutores/imunologia , Idoso , Antibacterianos/administração & dosagem , Anti-Inflamatórios/uso terapêutico , Quimioterapia Combinada , Glucocorticoides/uso terapêutico , Humanos , Hospedeiro Imunocomprometido , Linfadenite/etiologia , Masculino , Complexo Mycobacterium avium/crescimento & desenvolvimento , Infecção por Mycobacterium avium-intracellulare/diagnóstico , Infecção por Mycobacterium avium-intracellulare/tratamento farmacológico , Síndrome de Sweet/diagnóstico , Síndrome de Sweet/tratamento farmacológico , Linfócitos T Auxiliares-Indutores/classificação , Resultado do Tratamento
20.
Clin Immunol ; 183: 201-206, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28729231

RESUMO

Non-homologous end-joining (NHEJ) is a pathway that repairs double-strand breaks (DSB) in DNA and plays a vital role in V(D)J recombination of immunoglobulin genes. Cernunnos is a DNA repair factor that is involved in nonhomologous end-joining (NHEJ) process. Impairment in Cernunnos leads to a genetic disease characterized by neural disorders, immunodeficiency and increased radiosensitivity. We herein describe a severe combined immunodeficiency (SCID) patient with T- B+ phenotype who had a mutation in Cernunnos gene and manifested recurrent infections, microcephaly and growth retardation with hypogammaglobulinemia. Furthermore, our patient was associated with BCG adenitis and autoimmunity that less is observed in patients with Cernunnos deficiency. In contrast to previous reported Cernunnos-deficient patients, our patient had normal B-cell number along with normal IgA and IgM, suggesting a leaky form of the Cernunnos deficiency due to residual count of B cells in our patient. Cernunnos deficiency should be considered in children with recurrent bacterial infections, microcephaly and growth retardation, in spite of having normal B-cell as well as normal IgM and IgA level.


Assuntos
Vacina BCG/efeitos adversos , Enzimas Reparadoras do DNA/metabolismo , Proteínas de Ligação a DNA/metabolismo , Linfadenite/etiologia , Imunodeficiência Combinada Severa/genética , Pré-Escolar , Enzimas Reparadoras do DNA/deficiência , Enzimas Reparadoras do DNA/genética , Proteínas de Ligação a DNA/deficiência , Proteínas de Ligação a DNA/genética , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Irã (Geográfico) , Imunodeficiência Combinada Severa/patologia , Imunodeficiência Combinada Severa/terapia
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