Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL

被引：25

作者：

Bajin, Inci Yaman ^{[1
]}

Ayyaz, Deniz Cagdas ^{[2
]}

Unal, Sule ^{[3
]}

Ozgur, Tuba Turul ^{[2
]}

Cetin, Mualla ^{[3
]}

Gumruk, Fatma ^{[3
]}

Tezcan, Ilhan ^{[2
]}

de Villartay, Jean-Pierre ^{[4
]}

Sanal, Ozden ^{[2
]}

机构：

[1] Hacettepe Univ, Dept Pediat, Ihsan Dogramaci Childrens Hosp, TR-06100 Ankara, Turkey

[2] Hacettepe Univ, Div Immunol, Ihsan Dogramaci Childrens Hosp, TR-06100 Ankara, Turkey

[3] Hacettepe Univ, Div Hematol, Ihsan Dogramaci Childrens Hosp, TR-06100 Ankara, Turkey

[4] Hop Necker Enfants Malad, INSERM, U768, Paris, France

来源：

MOLECULAR IMMUNOLOGY | 2013年 / 56卷 / 04期

关键词：

SCID; Artemis; Hyper IgM syndrome; CRYPTOSPORIDIUM-PARVUM INFECTION; STRAND BREAK REPAIR; HYPER-IGM SYNDROME; SCLEROSING CHOLANGITIS; V(D)J RECOMBINATION; BONE-MARROW; DEFICIENCY; TRANSPLANTATION; LYMPHOCYTE; MUTATIONS;

D O I：

10.1016/j.molimm.2013.05.004

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

SCID can be caused by various genetic mutations leading to distinctive phenotypes according to the presence of T, B and NI( cells. Artemis is a gene encoded on chromosome 10p. The deficiency of this molecule causes an inability to repair DNA double strand breaks and is one of the causes of radiosensitive T-B-NK+ SCID. The syndrome usually presents with opportunistic infections in the first years of life that leads to death if not treated with stem cell transplantation. The spectrum of the disease can be wide because of the heterogeneity of the mutations. Herein we present an atypical SCID (CID) patient with Artemis defect mimicking hyper IgM syndrome. Our patient had high serum IgM with low IgG and IgA levels, lymphocytosis and recurrent infections, intractable diarrhea, growth retardation, systemic CMV infection and sclerosing cholangitis. He also developed large granular lymphocytic leukemia and survived until the age of 6.5 years. (C) 2013 Elsevier Ltd. All rights reserved.

引用

页码：354 / 357

页数：4

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