DNMT3B deficiency presenting as severe combined immune deficiency: A case report

被引：9

作者：

Mehawej, Cybel ^{[1
]}

Khalife, Hassan ^{[2
]}

Hanna-Wakim, Rima ^{[3
,4
]}

Dbaibo, Ghassan ^{[3
,4
]}

Farra, Chantal ^{[1
,5
]}

机构：

[1] St Joseph Univ, Fac Med, Med Genet Unit, Beirut, Lebanon

[2] Lebanese Univ, Al Zahraa Hosp Univ, Med Ctr, Beirut, Lebanon

[3] Amer Univ Beirut, Fac Med, Dept Pediat & Adolescent Med, Beirut, Lebanon

[4] Amer Univ Beirut, Fac Med, Ctr Infect Dis Res, Beirut, Lebanon

[5] Hotel Dieu France, Dept Med Genet, Beirut, Lebanon

来源：

CLINICAL IMMUNOLOGY | 2020年 / 215卷

关键词：

ICF syndrome; Immunodeficiency; Atypical presentation; Severe combined immunodeficiency; Whole exome sequencing; DNMT3B; CENTROMERIC INSTABILITY; FACIAL ANOMALIES; COMBINED IMMUNODEFICIENCY; EPIGENETIC REGULATION; DNA; MUTATIONS; ABNORMALITIES; CHROMOSOME-1; METHYLATION; FRAMEWORK;

D O I：

10.1016/j.clim.2020.108453

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a group of rare autosomal recessive disorders. The immune disease in the ICF syndrome consists mainly of humoral immunodeficiency. T-cell dysfunction has previously been suspected to be part of the syndrome's spectrum. However, patients with ICF display, at a young age, a normal number of T cells that tend to decline throughout disease progression due to apoptosis. Biallelic mutations in the DNMT3B gene account for around 50% of ICF cases (ICF type 1). The remaining half may be linked to ZBTB24, CDCA7 or HELLS. Here we report a novel homozygous DNMT3B mutation (NM_ 006892; p.R826H) in a Lebanese family presenting in early infancy with severe combined immune deficiency (SCID). This work expands the clinical spectrum of the ICF syndrome and confirms the importance of tailoring therapeutic approaches for each patient with ICF syndrome, according to the clinical manifestations of his disease.

引用

页数：4

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