Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

被引：12
作者：
Parackova, Zuzana [1 ,2 ]
Bloomfield, Marketa [1 ,2 ,3 ,4 ]
Vrabcova, Petra [1 ,2 ]
Zentsova, Irena [1 ,2 ]
Klocperk, Adam [1 ,2 ]
Milota, Tomas [1 ,2 ]
Svaton, Michael [2 ,5 ]
Casanova, Jean-Laurent [6 ,7 ,8 ,9 ,10 ,11 ]
Bustamante, Jacinta [6 ,7 ,8 ,11 ]
Fronkova, Eva [2 ,5 ]
Sediva, Anna [1 ,2 ]
机构：
[1] Charles Univ Prague, Fac Med 2, Dept Immunol, V Uvalu 84, Prague 15006 5, Czech Republic
[2] Motol Univ Hosp, V Uvalu 84, Prague 15006 5, Czech Republic
[3] Charles Univ Prague, Fac Med 1, Dept Pediat, Prague, Czech Republic
[4] Thomayers Hosp, Prague, Czech Republic
[5] Charles Univ Prague, Fac Med 2, CLIP Childhood Leukaemia Invest Prague, Dept Paediat Haematol & Oncol, Prague, Czech Republic
[6] Necker Hosp Sick Children, INSERM U1163, Necker Branch, Lab Human Genet Infect Dis, Paris, France
[7] Paris Descartes Univ, Imagine Inst, Paris, France
[8] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA
[9] Howard Hughes Med Inst, New York, NY USA
[10] Necker Hosp Sick Children, AP HP, Pediat Hematol Immunol Unit, Paris, France
[11] Necker Children Hosp, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France
来源：
JOURNAL OF CLINICAL IMMUNOLOGY | 2020年 / 40卷 / 01期
关键词：
NOD2; IFN gamma R1; IFN gamma; WES; MSMD; Blau syndrome; methotrexate; EARLY-ONSET SARCOIDOSIS; PEDIATRIC GRANULOMATOUS ARTHRITIS; INTERFERON-GAMMA; IFN-GAMMA; MYCOBACTERIUM-TUBERCULOSIS; CLINICAL-FEATURES; MURAMYL DIPEPTIDE; CARD15; MUTATIONS; INBORN-ERRORS; NOD2;
D O I：
10.1007/s10875-019-00720-6
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
Blau syndrome (BS) is an auto-inflammatory granulomatous disease that possibly involves abnormal response to interferon gamma (IFN gamma) due to exaggerated nucleotide-binding oligomerization domain containing 2 (NOD2) activity. Mendelian susceptibility to mycobacterial diseases (MSMD) is an infectious granulomatous disease that is caused by impaired production of or response to IFN gamma. We report a mother and daughter who are both heterozygous for NOD2(c.2264C>T) variant and dominant-negative IFNGR1(818del4) mutation. The 17-year-old patient displayed an altered form of BS and milder form of MSMD, whereas the 44-year-old mother was completely asymptomatic. This experiment of nature supports the notion that IFN gamma is an important driver of at least some BS manifestations and that elucidation of its involvement in the disease immunopathogenesis may identify novel therapeutic targets.
引用
收藏
页码：165 / 178
页数：14
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