Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome

被引：1

作者：

Jensen, Marie Louise Naestholt ^{[1
,2
]}

Mathiasen, Victor Dahl ^{[3
]}

Ifversen, Marinne ^{[1
,4
]}

Nielsen, Jeppe Sylvest Angaard ^{[1
,5
]}

机构：

[1] Rigshosp, Copenhagen Univ Hosp, Dept Paediat & Adolescent Med, Copenhagen, Denmark

[2] Aarhus Univ Hosp, Dept Rheumatol, Aarhus N, Denmark

[3] Aarhus Univ Hosp, Dept Infect Dis, Aarhus N, Denmark

[4] Rigshosp, Copenhagen Univ Hosp, Dept Paediat & Adolescent Med, Bone Marrow Transplant Unit, Copenhagen, Denmark

[5] Rigshosp, Copenhagen Univ Hosp, Dept Intens Care Med, Copenhagen, Denmark

来源：

BMJ CASE REPORTS | 2020年 / 13卷 / 12期

关键词：

influenza; paediatric intensive care; paediatric surgery; paediatric oncology; MYELODYSPLASTIC SYNDROMES; SPORADIC MONOCYTOPENIA; AUTOSOMAL-DOMINANT; MUTATIONS; CHILDREN;

D O I：

10.1136/bcr-2020-236521

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：4

共 50 条

[1] A UNIQUE PRESENTATION OF GATA2 DEFICIENCY, EMBERGER SYNDROME
Yamak, O.
Poowuttikul, P.
Navalpakam, A.
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2022, 129 : S132 - S132
[2] GATA2 deficiency in a patient with a somatic mutation of GATA2
Liu, Qingqing
Ju, Xiaoqin
Peng, Hong
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2024, 117 (01) : 66 - 68
[3] Severe Pulmonary Alveolar Proteinosis in a Patient with GATA2 Deficiency
Beder, T. N.
Correa de Almeida, G.
Del Carlo Bernardi, F.
Samano, M. N.
Minamoto, H.
Arimura, F. E.
Carvalho, C. R. R.
de Moraes Vasconcelos, D.
Kairalla, R. A.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2019, 199
[4] GATA2 Deficiency in a Pediatric Patient
Mojica, Ann Marie
Elizalde, Araceli
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2019, 7 (06): : 2021 - 2022
[5] The spectrum of GATA2 deficiency syndrome
Calvo, Katherine R.
Hickstein, Dennis D.
BLOOD, 2023, 141 (13) : 1524 - 1532
[6] A RARE CASE OF EMBERGER SYNDROME CAUSED BY A DE NOVO MUTATION IN THE GATA2 GENE
Michelini, S.
Cardone, M.
Agga, M. Haag O.
Bruson, A.
Maltese, P. E.
Bonizzato, A.
Bertelli, M.
LYMPHOLOGY, 2016, 49 (01) : 15 - 20
[7] WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene
Dorn, Joshua M.
Patnaik, Mrinal S.
Van Hee, Michelle
Smith, Matthew J.
Lagerstedt, Susan A.
Newman, Catherine C.
Boyce, Thomas G.
Abraham, Roshini S.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2017, 5 (04): : 1149 - +
[8] GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome
Leticia Brambila-Tapia, Aniel Jessica
Elias Garcia-Ortiz, Jose
Brouillard, Pascal
Ha-Long Nguyen
Vikkula, Miikka
Estela Rios-Gonzalez, Blanca
de Jesus Sandoval-Muniz, Roberto
Karen Sandoval-Talamantes, Ana
Bobadilla-Morales, Lucina
Roman Corona-Rivera, Jorge
Arnaud-Lopez, Lisette
HEMATOLOGY, 2017, 22 (08) : 467 - 471
[9] WILD SYNDROME IS GATA2 DEFICIENCY: REPORT OF A NOVEL MUTATION IN THE GATA2 GENE
Boyce, Thomas G.
Van Hee, Michelle
Lagerstedt, Susan A.
Smith, Matthew J.
Patnaik, Mrinal M.
Newman, Catherine C.
Abraham, Roshini
JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 239 - 240
[10] Generalized verrucosis in a patient with GATA2 deficiency
West, E. S.
Kingsbery, M. Y.
Mintz, E. M.
Hsu, A. P.
Holland, S. M.
Rady, P. L.
Tyring, S. K.
Grossman, M. E.
BRITISH JOURNAL OF DERMATOLOGY, 2014, 170 (05) : 1182 - 1186

← 1 2 3 4 5 →