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1.
BMJ Case Rep ; 13(12)2020 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-33370941

RESUMO

A 9-year-old girl was admitted to the paediatric intensive care unit with acute respiratory failure due to influenza. Nine months earlier, she presented with unexplained lymphoedema of the lower extremities and monocytopenia. She had a history of occasional finger warts and onychomycoses. During hospitalisation, the patient was diagnosed with Emberger syndrome caused by GATA2 deficiency. The admission was complicated by thromboses in the right hand, leading to amputation of multiple fingers. From then on, the patient has been in good recovery, the function of her right hand was improving and an allogeneic haematopoietic cell transplantation has now been successfully performed.


Assuntos
Dedos/patologia , Deficiência de GATA2/complicações , Fator de Transcrição GATA2/deficiência , Vírus da Influenza A/imunologia , /imunologia , Amputação , Antibacterianos/uso terapêutico , Antivirais/uso terapêutico , Criança , Códon sem Sentido , Análise Mutacional de DNA , Quimioterapia Combinada , Feminino , Dedos/cirurgia , Deficiência de GATA2/diagnóstico , Deficiência de GATA2/genética , Deficiência de GATA2/imunologia , Fator de Transcrição GATA2/genética , Gangrena/imunologia , Gangrena/cirurgia , Glucocorticoides/uso terapêutico , Transplante de Células-Tronco Hematopoéticas , Humanos , Vírus da Influenza A/isolamento & purificação , Influenza Humana/complicações , Influenza Humana/imunologia , Influenza Humana/terapia , Influenza Humana/virologia , Pulmão/diagnóstico por imagem , Pulmão/imunologia , Respiração Artificial , /terapia , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X
4.
Pediatr Blood Cancer ; 66(6): e27649, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30802360

RESUMO

Germline or acquired mutations involving the GATA-binding protein gene (GATA2) have been linked to a variety of clinical conditions. In addition, patients harboring GATA2 mutations have a striking predisposition to develop myeloid malignancies, such as myelodysplastic syndrome or acute myeloid leukemia, but not acute lymphoblastic leukemia (ALL). We report here a unique occurrence of early T-cell precursor ALL in a young child with GATA2 haploinsufficiency.


Assuntos
Deficiência de GATA2/complicações , Haploinsuficiência , Leucemia-Linfoma Linfoblástico de Células T Precursoras/patologia , Criança , Feminino , Humanos , Fenótipo , Leucemia-Linfoma Linfoblástico de Células T Precursoras/etiologia , Prognóstico
5.
Retin Cases Brief Rep ; 13(2): 181-184, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-28248742

RESUMO

PURPOSE: To examine the association between GATA2 deficiency-related myelodysplastic syndrome (MDS) and central retinal vein occlusion (CRVO). METHODS: Clinical ophthalmologic examination and laboratory work-up was performed for a patient with GATA2 deficiency-related MDS who experienced a unilateral CRVO. The literature was reviewed for reports of CRVO in the setting of MDS and allogeneic hematopoietic stem cell transplantation. RESULTS: Ophthalmologic examination revealed findings consistent with unilateral CRVO. Typical hypercoagulable work-up did not reveal an identifiable cause. A review of the patient's medical history revealed multiple potential causes of CRVO, including drug-induced and/or related to her history of MDS and hematopoietic stem cell transplantation. The literature was reviewed for reports of CRVO in association with her risk factors. CONCLUSION: On review of the literature, we determined that GATA2 deficiency-related MDS was a possible cause of this patient's CRVO although it is likely that her multiple risk factors worked synergistically to create a prothrombotic state. This case and review of the literature serve as an important reminder of the long and ever-evolving list of risk factors for the development of CRVO.


Assuntos
Deficiência de GATA2/complicações , Fator de Transcrição GATA2/genética , Oclusão da Veia Retiniana/etiologia , Adolescente , Evolução Fatal , Feminino , Humanos , Mutação de Sentido Incorreto
6.
Obstet Gynecol ; 132(5): 1112-1115, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30303925

RESUMO

BACKGROUND: Vulvar cancer has become more prevalent, and its causes include chronic dermatoses and human papillomavirus (HPV)-mediated disease. Younger immunocompromised women can also be affected. We describe a case of vulvar carcinoma as a result of GATA2 deficiency. CASE: A 19-year-old woman presented to our gynecologic oncology clinic for management of a large vulvar mass. She was diagnosed with stage IB vulvar carcinoma after vulvectomy. GATA2 deficiency was the contributing factor causing vulvar carcinoma. CONCLUSION: GATA2 deficiency causes immunodeficiency in young women, and patients with early-onset HPV-related disease, a family or personal history of leukemia, recurrent infection, or immune irregularities should be screened. Health care providers for these women are often obstetrician-gynecologists, who can provide diagnosis, treatment, referral, and prevention of HPV-related diseases.


Assuntos
Carcinoma in Situ/etiologia , Carcinoma de Células Escamosas/etiologia , Condiloma Acuminado/etiologia , Deficiência de GATA2/complicações , Síndromes de Imunodeficiência/complicações , Recidiva Local de Neoplasia/cirurgia , Neoplasias Vulvares/etiologia , Carcinoma in Situ/cirurgia , Carcinoma de Células Escamosas/cirurgia , Condiloma Acuminado/cirurgia , Feminino , Deficiência de GATA2/genética , Humanos , Síndromes de Imunodeficiência/genética , Neoplasias Vulvares/cirurgia , Adulto Jovem
8.
J Clin Immunol ; 38(4): 513-526, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29882021

RESUMO

The pathogenesis of life-threatening influenza A virus (IAV) disease remains elusive, as infection is benign in most individuals. We studied two relatives who died from influenza. We Sanger sequenced GATA2 and evaluated the mutation by gene transfer, measured serum cytokine levels, and analyzed circulating T- and B-cells. Both patients (father and son, P1 and P2) died in 2011 of H1N1pdm IAV infection at the ages of 54 and 31 years, respectively. They had not suffered from severe or moderately severe infections in the last 17 (P1) and 15 years (P2). A daughter of P1 had died at 20 years from infectious complications. Low B-cell, NK- cell, and monocyte numbers and myelodysplastic syndrome led to sequence GATA2. Patients were heterozygous for a novel, hypomorphic, R396L mutation leading to haplo-insufficiency. B- and T-cell rearrangement in peripheral blood from P1 during the influenza episode showed expansion of one major clone. No T-cell receptor excision circles were detected in P1 and P3 since they were 35 and 18 years, respectively. Both patients presented an exuberant, interferon (IFN)-γ-mediated hypercytokinemia during H1N1pdm infection. No data about patients with viremia was available. Two previously reported adult GATA2-deficient patients died from severe H1N1 IAV infection; GATA2 deficiency may predispose to life-threatening influenza in adulthood. However, a role of other genetic variants involved in immune responses cannot be ruled out. Patients with GATA2 deficiency can reach young adulthood without severe infections, including influenza, despite long-lasting complete B-cell and natural killer (NK) cell deficiency, as well as profoundly diminished T-cell thymic output.


Assuntos
Deficiência de GATA2/complicações , Influenza Humana/diagnóstico , Influenza Humana/etiologia , Biomarcadores , Citocinas/sangue , Análise Mutacional de DNA , Evolução Fatal , Feminino , Deficiência de GATA2/diagnóstico , Deficiência de GATA2/genética , Fator de Transcrição GATA2/genética , Humanos , Imunofenotipagem , Vírus da Influenza A , Influenza Humana/virologia , Subpopulações de Linfócitos/imunologia , Subpopulações de Linfócitos/metabolismo , Masculino , Mutação , Linhagem
9.
Haematologica ; 103(8): 1278-1287, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29724903

RESUMO

Heterozygous germline GATA2 mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series of 79 patients (53 families) diagnosed since 2011, made up of all patients in France and Belgium, with a follow up of 2249 patients/years. Median age at first clinical symptoms was 18.6 years (range, 0-61 years). Severe infectious diseases (mycobacteria, fungus, and human papilloma virus) and hematologic malignancies were the most common first manifestations. The probability of remaining symptom-free was 8% at 40 years old. Among the 53 probands, 24 had missense mutations including 4 recurrent alleles, 21 had nonsense or frameshift mutations, 4 had a whole-gene deletion, 2 had splice defects, and 2 patients had complex mutations. There were significantly more cases of leukemia in patients with missense mutations (n=14 of 34) than in patients with nonsense or frameshift mutations (n=2 of 28). We also identify new features of the disease: acute lymphoblastic leukemia, juvenile myelomonocytic leukemia, fatal progressive multifocal leukoencephalopathy related to the JC virus, and immune/inflammatory diseases. A revised International Prognostic Scoring System (IPSS) score allowed a distinction to be made between a stable disease and hematologic transformation. Chemotherapy is of limited efficacy, and has a high toxicity with severe infectious complications. As the mortality rate is high in our cohort (up to 35% at the age of 40), hematopoietic stem cell transplantation (HSCT) remains the best choice of treatment to avoid severe infectious and/or hematologic complications. The timing of HSCT remains difficult to determine, but the earlier it is performed, the better the outcome.


Assuntos
Deficiência de GATA2/epidemiologia , Mutação em Linhagem Germinativa , Adulto Jovem , Adolescente , Adulto , Bélgica , Criança , Pré-Escolar , França , Deficiência de GATA2/complicações , Deficiência de GATA2/genética , Deficiência de GATA2/terapia , Neoplasias Hematológicas/etiologia , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Lactente , Recém-Nascido , Infecções/etiologia , Pessoa de Meia-Idade , Mortalidade , Prognóstico , Inquéritos e Questionários
10.
Rinsho Ketsueki ; 59(3): 315-322, 2018.
Artigo em Japonês | MEDLINE | ID: mdl-29618691

RESUMO

An 18-year-old man was diagnosed with Epstein-Barr virus (EBV) -associated hemophagocytic syndrome (HPS) and treated with prednisolone (PSL) at a previous hospital. During PSL tapering, the HPS symptoms reappeared, and the patient was referred to our hospital. Increased PSL improved the symptoms, but the EBV infection remained unresolved. At age 20, he was admitted to our hospital for newly developed pneumonia and diagnosed with myelodysplastic syndrome (refractory cytopenia with multilineage dysplasia) (MDS-RCMD; normal karyotype, IPSS: Int-1) by bone marrow examination. MDS remission was achieved following bone marrow transplantation from an unrelated donor, and he is currently alive without relapse. The patient's father had also been diagnosed with MDS when he was young and died from leukoencephalopathy at approximately 50 years old. These observations support a diagnosis of familial MDS. GATA2 mutation p.R230Hfs*44 was identified in both bone marrow and control cells (buccal swab) at MDS diagnosis, and he was diagnosed with monocytopenia and mycobacterial infection (MonoMAC) syndrome. Furthermore, an acquired STAG2 mutation (splicing site change, c.820-2A>G) in the bone marrow cells was also identified, which might contribute to MDS progression.


Assuntos
Infecções por Vírus Epstein-Barr/complicações , Deficiência de GATA2/complicações , Síndromes Mielodisplásicas/etiologia , Adolescente , Medula Óssea , Transplante de Medula Óssea , Análise Mutacional de DNA , Fator de Transcrição GATA2/genética , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/terapia , Indução de Remissão , Adulto Jovem
12.
Br J Dermatol ; 178(3): 781-785, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28440875

RESUMO

GATA2 mutations have been identified in various diseases, such as MonoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukaemia and dendritic cell, monocyte, B-cell and natural killer-cell deficiency. These syndromes present a wide range of clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of patients with GATA2 mutations have dermatological features, mainly genital or extragenital warts, panniculitis or erythema nodosum and lymphoedema. We report three patients presenting with common dermatological and haematological features leading to the diagnosis of GATA2 deficiency, but also with skin manifestations that have not been previously described: gingival hypertrophy, macroglossitis and glossitis and granulomatous lupoid facial lesions. Dermatologists can encounter patients with GATA2 mutations and should recognize this disorder.


Assuntos
Deficiência de GATA2/complicações , Fator de Transcrição GATA2/genética , Mutação/genética , Dermatopatias/genética , Adulto , Criança , Eritema Nodoso/genética , Dermatoses Faciais/genética , Feminino , Deficiência de GATA2/diagnóstico , Hipertrofia Gengival/genética , Glossite/genética , Humanos , Lúpus Eritematoso Cutâneo/genética , Linfedema/genética , Masculino , Adulto Jovem
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