OBJECTIVE: To study the clinical features of METHODS: A retrospective analysis was performed on the medical data of children with immunodeficiency and RESULTS: The onset age in the PID group was significantly lower than those in the control and SID groups ( CONCLUSIONS Children with immunodeficiency and
Age of Onset ; Child ; Humans ; Immunologic Deficiency Syndromes/diagnosis* ; Male ; Retrospective Studies ; Tuberculin Test ; Tuberculosis/epidemiology*

Humans ; Immunologic Deficiency Syndromes ; classification ; diagnosis ; Infant ; Infant, Newborn ; Neonatal Screening

Humans ; Immunologic Deficiency Syndromes ; diagnosis ; Infant, Newborn ; Infant, Newborn, Diseases ; diagnosis ; Neonatal Screening

Bacillus Calmette-Guérin (BCG) is a live vaccine and has the potential to cause local disease and systemic dissemination in immunocompromised hosts, including infants who are infected with human immunodeficiency virus (HIV) through vertical transmission, and patients with primary immunodeficiencies (PID) such as severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), hyper-IgM syndrome, and defects of the IL12- IFNγ axis (Mendelian susceptibility to mycobacterial diseases, MSMD). Disseminated BCG is extremely difficult to treat. The chance of complete eradication is low unless functional immune response is restored by haematopoietic stem cell transplant. Prolonged use of anti-mycobacterial drugs often causes organ toxicities and drug resistance. Inflammatory complications which develop upon immunoreconstitution post-transplant may necessitate immunosuppressive treatment, which adversely affect immune recovery and increases risks of opportunistic infections. Multiple BCG reactivations can occur in patients with CGD and MSMD, and BCG can remain latent until reactivations take place in adulthood and manifest as disease. It is important for neonatologists, general practitioners, primary care clinicians and nurses working in maternal and child care centres to be aware of BCG-related complications, which may be the first sign of an underlying immunodeficiency. As neonatal BCG is included in standard vaccination schedule in many countries, it is a challenge to identify and avoid administration of BCG to infants who potentially have PIDs. Deferring BCG vaccination is recently advocated to protect highly vulnerable populations, but the appropriate strategy is yet to be determined. Newborn screening for SCID offers a potential to avoid this complication, if an integrated system of screening and vaccination can be organised.
Adjuvants, Immunologic ; adverse effects ; therapeutic use ; BCG Vaccine ; adverse effects ; immunology ; therapeutic use ; Humans ; Immunologic Deficiency Syndromes ; diagnosis ; immunology ; Infant, Newborn ; Mycobacterium Infections ; prevention & control ; Mycobacterium bovis ; drug effects ; Neonatal Screening ; methods ; Risk Assessment ; Vaccination ; adverse effects ; methods

Bone and Bones ; pathology ; Humans ; Immunologic Deficiency Syndromes ; diagnosis ; Osteochondrodysplasias ; diagnosis

Adult ; Humans ; Immunologic Deficiency Syndromes ; diagnosis ; immunology ; Job Syndrome ; diagnosis ; immunology ; Killer Cells, Natural ; pathology ; Male ; Young Adult

ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the evaluation of an ABO discrepancy in a 16-yr-old Korean boy. ABO blood grouping showed that while his cell type was O+, serum typing detected only anti-A (3+). Anti-B was not detectable at room temperature but was graded at 1+ at 4degrees C. ABO genotyping revealed an O/O genotype. His serum IgG, IgA, and IgM concentrations were 770 mg/dL (reference range: 800-1,700 mg/dL), 244 mg/dL (reference range: 100-490 mg/dL), and 13.5 mg/dL (reference range: 50-320 mg/dL), respectively. He was diagnosed with acute osteomyelitis on the basis of clinical presentation and imaging studies. The symptoms gradually improved within 3 weeks of treatment. However, the ABO discrepancy and IgM deficiency persisted even 6 months after recovery and lymphocyte subset analysis revealed CD19+ B cell deficiency. To the best of our knowledge, IgM deficiency detected by ABO discrepancy in a patient with acute osteomyelitis has not been reported before.
ABO Blood-Group System/genetics ; Acute Disease ; Adolescent ; B-Lymphocytes/cytology/immunology/metabolism ; Bone and Bones/radionuclide imaging ; Genotype ; Humans ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Immunologic Deficiency Syndromes/complications/*diagnosis ; Knee/radionuclide imaging ; Magnetic Resonance Imaging ; Male ; Osteomyelitis/complications/*diagnosis ; Radiopharmaceuticals/diagnostic use

ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the evaluation of an ABO discrepancy in a 16-yr-old Korean boy. ABO blood grouping showed that while his cell type was O+, serum typing detected only anti-A (3+). Anti-B was not detectable at room temperature but was graded at 1+ at 4degrees C. ABO genotyping revealed an O/O genotype. His serum IgG, IgA, and IgM concentrations were 770 mg/dL (reference range: 800-1,700 mg/dL), 244 mg/dL (reference range: 100-490 mg/dL), and 13.5 mg/dL (reference range: 50-320 mg/dL), respectively. He was diagnosed with acute osteomyelitis on the basis of clinical presentation and imaging studies. The symptoms gradually improved within 3 weeks of treatment. However, the ABO discrepancy and IgM deficiency persisted even 6 months after recovery and lymphocyte subset analysis revealed CD19+ B cell deficiency. To the best of our knowledge, IgM deficiency detected by ABO discrepancy in a patient with acute osteomyelitis has not been reported before.
ABO Blood-Group System/genetics ; Acute Disease ; Adolescent ; B-Lymphocytes/cytology/immunology/metabolism ; Bone and Bones/radionuclide imaging ; Genotype ; Humans ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Immunologic Deficiency Syndromes/complications/*diagnosis ; Knee/radionuclide imaging ; Magnetic Resonance Imaging ; Male ; Osteomyelitis/complications/*diagnosis ; Radiopharmaceuticals/diagnostic use

OBJECTIVETo determine risk factors of invasive fungal infections (IFI) in patients admitted to non-hematological oncology department and pediatric intensive care unit (PICU), in order to improve diagnostic level of invasive fungal infections.

METHODWe retrospectively assessed 85 hospitalized pediatric patients with invasive fungal infections in Beijing Children's Hospital Affiliated to Capital Medical University from Jan.2007 to Nov.2012. All the cases were either from non-hematological oncology department or the PICU.We reviewed risk factors of invasive fungal infections.

RESULTAmong 85 patients, 42 had invasive candida infection, 20 invasive aspergillus infection, 21 cryptococcus infection, 1 Histoplasma capsulatum infection and 1 Mucor mucedo infection.In the 42 patients with invasive candida infection, 5 were young infants, 3 had combined immunodeficiency, 1 cellular immunodeficiency, 25 secondary infection due to long term use of corticosteroids and/or combined use of more than 2 kinds of antibiotics with primary disease, 5 prior intestinal tract surgery or chronic diarrheal disease, 1 reflux gastritis.In the 20 patients with invasive aspergillosis infection, 10 patients had chronic granulomatous disease, 5 long term use of corticosteroids ≥ 1 month, 3 long term use of corticosteroids and combined use of more than 2 kinds of antibiotics, 2 had no apparent host factors.In the 21 patients with cryptococcus infection, 2 patients had used corticosteroids ≥ 1 month, 2 had immunodeficiency mainly for lack of antibodies, while others had no apparent host factors. The child with Mucor mucedo infection had diabetes mellitus. And the one with Histoplasma capsulatum infection had immunodeficiency.

CONCLUSIONHigh risk factors for IFI in patients admitted to non-hematological oncology department and PICU are primary immunodeficiency disease and long term use of corticosteroids and/or long term combined use of more than 2 kinds of antibiotics. Besides, young infant is also a high risk factor for invasive candida infection. Most of the cryptococcus infections and certain aspergillosis had no obvious host factors.

Adolescent ; Adrenal Cortex Hormones ; administration & dosage ; adverse effects ; Age Factors ; Anti-Bacterial Agents ; administration & dosage ; adverse effects ; Aspergillosis ; diagnosis ; etiology ; microbiology ; Aspergillus ; isolation & purification ; Candida ; isolation & purification ; Child ; Child, Preschool ; Cross Infection ; epidemiology ; microbiology ; Female ; Humans ; Immunologic Deficiency Syndromes ; complications ; Infant ; Infant, Newborn ; Male ; Multivariate Analysis ; Mycoses ; diagnosis ; etiology ; microbiology ; Retrospective Studies ; Risk Factors

OBJECTIVETo understand the clinical characteristics and outcome associated with respiratory syncytial virus (RSV) infection in hematopoietic stem cell transplantation (HSCT) recipients with primary immunodeficiencies (PIDs).

METHODNasopharyngeal aspirate samples were collected consecutively before and after HSCT from 9 recipients from Apr. 2009 to Sep. 2010 and analyzed for the presence of RSV using real-time polymerase chain reaction assay. To further verify the presence of the virus, positive samples for PCR were isolated for RSV. RSV G gene was amplified, sequenced and used for phylogenetic analysis.

RESULTThe presence of RSV was detected in 3 out of 9 children. The viral replication in all the patients was prolonged for months. All the 3 patients with RSV infection were treated with intravenous immune globulin (IVIG) and one was treated with antiviral medication. All patients survived and achieved successful immune reconstitution.

CONCLUSIONThis study indicates that the HSCT recipients with PID are at increased risk for RSV infection. RSV can shed for months after the initial infection and the patients recover with the course of immune reconstitution.

Child, Preschool ; Female ; Hematopoietic Stem Cell Transplantation ; adverse effects ; Humans ; Immunologic Deficiency Syndromes ; surgery ; virology ; Infant ; Prognosis ; Respiratory Syncytial Virus Infections ; diagnosis ; drug therapy ; Respiratory Syncytial Viruses ; genetics ; isolation & purification ; physiology ; Virus Replication ; Virus Shedding