Macrophage Activation Syndrome Mimicking Life-Threatening Infection in a Patient With Variable Immunodeficiency, Centromeric Instability, and Facial Anomalies-Reference-Cited by-同舟云学术

Macrophage Activation Syndrome Mimicking Life-Threatening Infection in a Patient With Variable Immunodeficiency, Centromeric Instability, and Facial Anomalies

Published:2004-10-01 Issue:4 Volume:114 Page:1127-1127
ISSN:0031-4005
Container-title:Pediatrics
language:en
Short-container-title:

Author:

André Nicolas¹,Roquelaure Bertrand²,Caillez Mathilde²,Chrestian Marianne³,Moncla Anne⁴,Blanco-Betancourt Carla⁵,Schiff Claudine⁵

Affiliation:

1. Département Multidisciplinaire de Pédiatrie and Oncologie Pédiatrique  Hôpital Pour Enfants de “La Timone”  Marseille 13005, France

2. Département Multidisciplinaire de Pédiatrie  Hôpital Pour Enfants de “La Timone”  Marseille 13005, France

3. Service d'Anatomie Pathologique et de Neuropathologie,  Hôpital de la Timone,  Marseille 13005, France

4. Centre de Génétique Médicale  Hôpital Pour Enfants de “La Timone”  Marseille 13288, France

5. Centre d'Immunologie de Marseille-Luminy  Marseille 13288, France

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology and Child Health

Link

https://publications.aap.org/pediatrics/article-pdf/114/4/1127/1020347/zpe01004001127.pdf

Reference7 articles.

1. Xu GL, Bestor TH, Bourc'his D, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999;402:187–191

2. Erlich M. ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease. Clin Immunol. 2003;109:17–28

3. Blanco-Betancourt CE, Moncla A, Milili M, et al. Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood. 2004;103:2683–2690

4. Haas OA. Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome—a virus-induced phenomenon?Hum Genet. 1990;85:244–246

5. Ramanan AV, Schneider R. Macrophage activation syndrome—what's in a name!J Rheumatol. 2003;30:2513–2516

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2. Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due toZBTB24mutations, presenting with large cerebral cyst;American Journal of Medical Genetics Part A;2012-07-11

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