Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family

被引:0
作者
Dellepiane, Rosa Maria [1 ]
Baselli, Lucia Augusta [1 ]
Cazzaniga, Marco [1 ]
Lougaris, Vassilios [2 ,3 ,4 ]
Macor, Paolo [5 ]
Giordano, Mara [6 ,7 ]
Gualtierotti, Roberta [8 ]
Cugno, Massimo [8 ]
机构
[1] Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pediat, I-20122 Milan, Italy
[2] Univ Brescia, Pediat Clin, I-25121 Brescia, Italy
[3] Univ Brescia, Inst Mol Med A Nocivelli, Dept Clin & Expt Sci, I-25121 Brescia, Italy
[4] Spedali Civili Brescia, I-25121 Brescia, Italy
[5] Univ Trieste, Dept Life Sci, I-34123 Trieste, Italy
[6] Univ Piemonte Orientale, Dept Hlth Sci, Lab Genet, I-28100 Novara, Italy
[7] Interdisciplinary Res Ctr Autoimmune Dis, I-28100 Novara, Italy
[8] Univ Milan, Fdn IRCCS Ca Granda, Dept Pathophysiol & Transplantat, Internal Med,Osped Maggiore Policlin, I-20122 Milan, Italy
来源
MEDICINA-LITHUANIA | 2020年 / 56卷 / 03期
关键词
complement deficiency; C2; deficiency; pneumococcal meningitis; Streptococcus pneumoniae; hypogammaglobulinemia; C2; DEFICIENCY; IMMUNODEFICIENCIES; SUSCEPTIBILITY; PREVALENCE; INFECTION; DISEASE;
D O I
10.3390/medicina56030120
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Complement deficiencies are rare and often underdiagnosed primary immunodeficiencies that may be associated with invasive bacterial diseases. Serious infections with encapsulated organisms (mainly Streptococcus pneumoniae, but also Neisseria meningitides and Haemophilus influenzae type B) are frequent in patients with a deficiency of the second component of complement (C2), but no data are available on long-term follow-up. This study aimed to evaluate the long-term clinical outcome and the importance of an early diagnosis and subsequent infection prophylaxis in C2 deficiency. Here, we report the 21-year follow-up of a whole family which was tested for complement parameters, genetic analysis and biochemical measurements, due to recurrent pneumococcal meningitis in the elder brother. The two sons were diagnosed with homozygous type 1 C2 deficiency, while their parents were heterozygous with normal complement parameters. For the two brothers, a recommended vaccination program and antibiotic prophylaxis were prescribed. During the long-term follow-up, no severe/invasive infections were observed in either patient. At the age of 16, the younger brother developed progressive hypogammaglobulinemia of all three classes, IgA, IgM and IgG. A next generation sequencing panel excluded the presence of gene defects related to primary antibody deficiencies. Our data show that early diagnosis, use of vaccinations and antibiotic prophylaxis may allow a normal life in hereditary C2 deficiency, which can be characterized using functional and genetic methods. Moreover, a periodical check of immunoglobulin serum levels could be useful to detect a possible hypogammaglobulinemia.
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页数:8
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