Disseminated BCG as a unique feature of an infant with severe combined immunodeficiency

Severe combined immunodeficiency (SCID) is a rare primary immunodeficiency disease, which renders patients prone to recurrent severe infections in early childhood. Herein, we present a five-month-old boy with SCID who was referred to our center with recurrent diarrhea, respiratory infection and lymphadenopathy. Immunological studies showed hypogammaglobulinemia and low number of T-cells, which was compatible with the diagnosis of T- B+ SCID. An advanced cytomegalovirus pneumonitis was detected based on the results of lung necropsy. Cultures and polymerase chain reaction studies of bone marrow aspirates and spleen specimen were indicative of Mycobacterium bovis. This report emphasizes the importance of lymphadenopathy as a sentinel sign of immunological disorders. Underlying immunodeficiency diseases such as SCID should be considered in the differential diagnosis of an infant with infections and lymphadenopathy, particularly in the regions with routine national Bacillus Calmette-Guérin (BCG) vaccination.     

DISSEMINATED BCG INFECTION RESEMBLING LANGERHANS CELL HISTIOCYTOSIS IN AN INFANT WITH SEVERE COMBINED IMMUNODEFICIENCY: A Case Report

We present a very rare congenital immunologic disease, severe combined immunodeficiency syndrome (SCID) in 6-months-old-boy with prolonged mucocutaneous candidiasis, severe anaemia, skin rash similar to the infiltrative eczema of Langerhans cell histiocytosis (LCH) and subcutaneous nodules with histiocytic infiltration. Laboratory findings show profound absence of humoral and cell-mediated immunity. Pathology specimens analysis of subcutaneous nodule revealed numerous S-100 protein and Cd1a negative histiocytes, occupied by BCG intracellular growth. Histopathology and immunohistochemistry confirmed the diagnosis of BCG dissemination. BCG vaccination in infants with SCID can lead to life threatening dissemination, resembling to the infiltrative eczema of LCH and may mislead the clinician.     

Chimerism in a child with severe combined immunodeficiency: a case report

Severe combined immunodeficiency (SCID) represents a group of rare, sometimes fatal, congenital disorders in which there is a combined absence of T-lymphocyte and B-lymphocyte function. Children with SCID die within two years of age, if untreated. The effective treatment for SCID is a hematopoietic stem cell transplantation (HSCT). It has been repeatedly described that in peripheral blood of infants with SCID maternal T cells can be found. Here we report a case of blood chimerism in a one-year-old boy with SCID.     

严重联合免疫缺陷并发全身播散性卡介苗病一例

患儿男,8个月,因左下肢肿胀3个月、皮下结节2个月伴发热3d入院。患儿3个月前出现左下肢肿胀,皮肤发硬,当地医院诊为橡皮肿,未予治疗,2个月前患儿左上肢出现3个黄豆大小硬性皮下结节,2个月来皮下结节逐渐增多,散在分布于躯干及四肢,且体积逐渐增大至花生米大小,部分结节变软破溃流脓,曾多次在当地医院静脉输注抗生素治疗无效,入我院前3d起患儿中等度发热,发病以来患儿精神食欲差,体重增长缓慢。该患儿为第一胎第一产,足月顺产,生后第2天接种卡介苗,按时接种脊髓灰质炎疫苗及白百破疫苗,父母家系三代均无类似疾病史。查体：重病容,面色略苍白,发育营养稍差,左上臂卡介苗接种处见-1cm×1cm溃疡面,有脓性渗出,全身散在数十枚绿豆至花生米大小皮下结节,略高出皮面,质中偏硬,活动可,腹壁数个结节明显凸出皮面,结节内有波动感,部分破溃后有脓性液体流出,阴囊内可触及数个绿豆大小活动性结节,右侧睾丸下极一0．5cm×0．5cm硬性结节,全身浅表淋巴结未触及,心肺检查未见异常,肝肋下2．5cm,脾肋下3cm,质地中等,左下肢橡皮样肿胀。     

Beware the lymphopenia: a case of severe combined immunodeficiency

We present a case of a 2-month-old boy with partially treated meningitis and suspected Pneumocystis carinii pneumonia. A full blood count revealed profound lymphopenia. The child was diagnosed with adenosine deaminase deficiency, a rare cause of severe combined immunodeficiency (SCID). SCID is an immunological emergency and must be considered in any lymphopaenic infant with opportunistic infection. We discuss adenosine deaminase-deficient SCID, which can involve multiple systems and in which other treatment options apart from bone marrow transplant are available.     

Successful bone marrow transplantation and treatment of BCG infection in two patients with severe combined immunodeficiency

We report successful bone marrow transplantation (BMT) in two patients with severe combined immunodeficiency (SCID), who had developed BCG infection following neonatal vaccination. Patient 1 had Omenn Syndrome, associated with hypertrophic nonobstructive cardiomyopathy. Patient 2 had SCID due to adenosine deaminase deficiency. This communication demonstrates that with appropriate anti-mycobacterial cover, immunological reconstitution together with full recovery from BCG infection can be achieved by BMT. As demonstrated by persistant negative Mantoux tests, specific cell-mediated immunity to BCG was not acquired following BMT. We suggest that these children may continue to be at risk from mycobacterial infection.     

Pulmonary langerhans cell histiocytosis masquerading as tuberculosis in an infant

A 4-month-old infant presented with continued fever, unresolving bronchopneumonia and household contact with sputum-smear-positive tuberculosis (TB) and showed marginal improvement on anti-TB chemotherapy. Recurrent pneumothorax prompted the clinical diagnosis of TB to be revised. High-resolution CT scan of the chest and open lung biopsy confirmed the diagnosis of pulmonary Langerhans cell histiocytosis. Treatment with prednisolone and vinblastin resulted in settling of fever and resolution of respiratory symptoms and signs. In communities where the prevalence of TB is high, unusual presentations should prompt consideration of alternative diagnoses.     

婴儿播散性马内菲青霉感染一例

患儿男,10个月.因反复发热20余天入院.体检:精神萎靡,体温38.5℃,心率:140次/min.双侧颌下淋巴结蚕豆大小,活动.口腔黏膜见白色凝乳状斑片,附着紧密.咽部充血明显,双侧扁桃体不大.叩诊心界不大,听诊律齐,各瓣膜区未闻及杂音.双肺未闻及干湿哕音及哮鸣音.腹软,肝右肋下10 cm,脾左肋下8 cm.     

新生儿朗格汉斯细胞组织细胞增生症一例

患儿 ,男 ,34d ,因“额部肿物 1个月”入新生儿外科病房。患儿为足月顺产 ,生后即发现额部肿物 ,暗红色 ,逐渐增大至鸡蛋黄大小 ,病来未经治疗 ,曾破溃一次 ,周身同时伴有皮疹 ,时多时少 ,无发热 ,吃奶好 ,大小便正常。母孕期正常。体检 :体温 37℃ ,脉搏 12 5次 /min ,呼吸 35次 /min ,体重 5 70 0 g。营养中等 ,神志清 ,呼吸平稳。周身可见暗红色直径 1～ 2mm皮疹 ,以躯干部为著 ,主要表现为斑丘疹 ,脱屑 ,出血性皮疹 ,溃疡结痂。心肺正常。肝肋下约 3 0cm ,脾肋下 2 0cm。外科所见 :右眉头上方见一类圆形红色包块 ,约 2 5cm× 2 5cm ,…     

Successful transplantation of soy bean agglutinin-fractionated,histoincompatible, maternal marrow in a patient with severe combined immunodeficiency and BCG infection

A successful transplantation of soybean agglutinin (SBA) and sheep red blood cell (SRBC)-fractionated, maternal marrow in a patient with severe combined immunodeficiency (SCID) is reported. The engraftment of HLA-haplotype mismatched marrow cells was obtained without apparent graft versus host disease (GVHD). With immunological reconstituion the patient recovered from a BCG infection, which might have been caused by a BCG inoculation before his bone marrow transplantation.Abbreviations SCID severe combined immunodeficiency - PPD purimed protein derivative - SK-SD streptokinase/streptodornase - MLC mixed leukocyte culture - SBA soybean agglutinin - SRBC (E) sheep red blood cell - GVHD graft versus host disease - PHA phytohaemagglutinin - Con A concanavalin A - PWM pokeweed mitogen - EBV Epstein-Barr virus - cpm counts per min     

联合免疫缺陷并郎格罕细胞组织细胞增生症一例

1 病历摘要 患儿,男,9个月,生后6个月无诱因出现反复高热、咳喘,伴前额枕部及颈部暗红色丘疹,边界清,无痒感,无腹泻,口腔黏膜反复出现乳白色附着物.查免疫球蛋白IgG1.82 g/L,IgA正常,结核菌素试验阴性,支原体抗体阴性,X线胸片示肺内炎症,胸、腹部CT示胸腺发育小,双肺、肝脏占位性病变,椎体附件、肋骨受累,提示系统性疾病,诊断不清,以"发热待查"收入院.患儿无特殊家族史,3个月和8个月时结核菌素试验均阴性.     

Disseminated Acanthamoeba infection in a human immunodeficiency virus-infected infant

Infection with Acanthamoeba is difficult to diagnose and treat. We present the first case of disseminated Acanthamoeba infection in an HIV-infected infant. The infant survived 2 years with treatment with several agents having anti-Acanthamoeba activity in vitro.     

腺苷脱氨酶缺陷重症联合免疫缺陷伴疫苗接种后播散性水痘感染一例

目的 提高对腺苷脱氨酶(ADA)缺陷重症联合免疫缺陷(SCID)及疫苗接种后播散性水痘感染的认识.方法 结合1例ADA缺陷SCID伴疫苗接种后播散性水痘感染的临床资料和文献复习,探讨ADA缺陷SCID背景知识、临床表现、诊断和治疗.结果 患儿存在生长停滞情况,以发热、皮疹3周余入院,出皮疹前两周曾接种水痘疫苗,水痘直接免疫荧光试验阳性,血液常规检查淋巴细胞比例和绝对值(105×106/L)明显降低,IgG(1520 ms/L)、IgM(250 mg/L)和IgA(102 ms/L)显著降低,淋巴细胞亚群CD3、CD4、CD8和CD19的相对比例和绝对值均显著降低,CD56比例升高,但其绝对值显著降低.红细胞ADA值明显降低,脱氧核苷酸腺苷明显升高.结论 ADA缺陷SCID存在特征性改变,目前的治疗方法包括造血干细胞移植、酶替代治疗和基因治疗.对生长发育停滞儿童需重视免疫功能评估,对免疫缺陷病患儿需加强疫苗接种管理.     

Acute leukemia in association with langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) and malignancy occurring in the same individual is unusual and has generally been the subject of isolated case reports. To better define the occurrence of these events a registry of cases with synchronous or asynchronous LCH and malignancy was developed with the cooperation of the Histiocyte Society. In 1991 the Histiocyte Society surveyed its members requesting information on cases in which LCH was associated with malignancy. The questionnaire was mailed to all members of the society and specifically requested information on the clinical and laboratory features of the cases, disease evolution, and response to therapy. Retrospective reporting was allowed. With this initial data, an ongoing registry of LCH patients with associated malignancy was begun of such cases, including evolution and response to therapy. Twenty-seven patients were enrolled during the first year of the registry, of whom 4 patients had the association of LCH with a malignant lymphoma and 10 cases had an association of LCH with other types of solid tumor. The remaining 13 patients had the association of LCH with acute leukemia. In five cases, LCH was associated with acute lymphoblastic leukemia FAB L1 (ALL). In four cases the ALL preceded the LCH by 6 months to 1 year. In four of five patients the LCH was localized; in two instances the LCH was treated with chemotherapy. In all cases the leukemia was treated according to local standard ALL protocols and in one case autologous bone marrow transplantation (ABMT) was performed at relapse. Three patients are free of leukemia, one of whom has persistent localized LCH of the skin. Two patients died of the ALL, one of whom was free of the LCH at the time of death. In eight instances LCH was reported in association with acute myeloid leukemia (AML). Six of these patients had a generalized form of LCH. In seven the diagnosis of LCH preceded the diagnosis of leukemia by more than 2 years (median 4 years). In the remaining patient both diagnoses were made concurrently. In all seven cases in whom LCH was the initial diagnosis the treatment consisted of chemotherapy and/or radiotherapy. Seven patients died from the AML, five without evidence of LCH. The temporal patterns of the LCH-ALL and LCH-AML associations are distinct with ALL usually preceding the diagnosis of LCH and AML succeeding it. Such a pattern is suggestive that in cases of ALL the LCH may be a reactive process while in cases of AML occurring after LCH the primary LCH therapy may play an inductive role in the leukemia. © 1994 Wiley-Liss, Inc.     

Disseminated cryptococcal infection in patient with novel JAK3 mutation severe combined immunodeficiency, with resolution after stem cell transplantation

Disseminated cryptococcal infection is the second most common cause of death after tuberculosis in acquired immune deficiency syndrome patients. Surprisingly, it has been reported only in few patients with primary immunodeficiency diseases. Herein, we report the clinical presentation and outcome of a 23-month-old boy with novel JAK3 mutation severe combined immunodeficiency disease complicated by severe disseminated cryptococcal infection.     

Langerhans' cell histiocytosis: report of an atypical case

A patient is described with Langerhans' cell histiocytosis and polyneuropathy diagnosed 12 years after the development of diabetes insipidus after head trauma.     

T-cell-depleted CD34+ cell transplantation from an HLA-mismatched donor in a low-birthweight infant with X-linked severe combined immunodeficiency

The best strategy of hematopoietic stem cell (HSC) transplantation for low-birthweight (LBW) infants with severe combined immunodeficiency (SCID) remains to be determined. To avoid the toxicity of drugs used for the transplantation and the risk of graft-versus-host disease (GVHD), the authors performed allogeneic bone marrow HSC transplantation with a combination of CD34 selection and T-cell depletion in a LBW infant with X-linked SCID. The authors analyzed the process of T-cell reconstitution after the transplantation in this patient. The patient was born at 30 weeks and 2 days' gestational age via cesarean section. He was diagnosed as having SCID at birth. The patient received a transplant of 1 million CD34+ cells/kg body weight. Immunologic reconstitution was investigated by means of phenotypic analysis of T cells and genetic analysis of coding joint T-cell receptor rearrangement excision circle expression. Increases in donor-derived NK cells and T cells were observed 2 and 3 months after the transplantation, respectively. The patient had no infectious complications or GVHD despite the presence of SCID and prematurity-associated immunodeficiency. Analysis of T-cell regeneration pathways revealed that T cells reconstituted mainly via the thymus-dependent pathway. T-cell-depleted CD34+ cell transplantation would be a safe and useful therapy for LBW infants with SCID.     

婴儿原发性严重联合免疫缺陷病并发结核性指骨炎1例

患儿,男,5个月,因发热、咳嗽1月余入院.患儿于1月余前出现咳嗽,伴发热,体温最高39℃,就诊于多家医院,先后给予阿莫西林/克拉维酸钾、头孢曲松钠、头孢呋辛钠、美罗培南、万古霉素、阿奇霉素等抗生素静脉滴注治疗及输注丙种球蛋白(IVIG),病情无好转.发病以来精神、食欲差,大便呈稀糊状,小便正常.否认结核病接触史.既往多次患鹅口疮.足月顺产,生后常规接种卡介苗,3个月后出现卡疤.否认遗传病家族史.