China ; Humans ; Immunologic Deficiency Syndromes ; diagnosis ; therapy

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

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

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

OBJECTIVETo summarize clinical features of primary immunodeficiency diseases (PID) in children.

METHODSThe clinical data of 35 children with PID from September 2005 to December 2008 were studied retrospectively, including illness history, birth history, family history, clinical manifestations, laboratory findings, diagnosis, treatment and outcome.

RESULTSOf the 35 cases of PID, 6 cases were confirmed with combined T- and B-cell immunodeficiency, 4 cases with X-linked agammaglobulinaemia, 22 cases with selective IgG subclass deficiency, 1 case with common variable immunodeficiency and 2 cases with chronic granulomatous disease. All cases had fever and recurrent infections. Respiratory and digestive tract infections were the most common clinical manifestation. Some of the PID cases lagged behind the normal children of the same age in growth and development. Human gamma-globulin transfusion and anti-infection therapy were administered. Two patients discontinued the therapy, one was transferred to the other hospital and the other 32 patients were discharged following improvement in clinical symptoms.

CONCLUSIONSPID should be considered in children who suffer from recurrent infections and autoimmune diseases or do not respond to long-term use of antibiotics. Immunologic tests should be done as early as possible for the children.

Child, Preschool ; Female ; Humans ; Immunologic Deficiency Syndromes ; complications ; diagnosis ; therapy ; Infant ; Infant, Newborn ; Male ; Retrospective Studies

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*

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

Child ; China ; epidemiology ; Diagnosis, Differential ; Early Diagnosis ; Hematopoietic Stem Cell Transplantation ; methods ; Humans ; Immunoglobulins, Intravenous ; administration & dosage ; pharmacology ; Immunologic Deficiency Syndromes ; diagnosis ; epidemiology ; prevention & control ; therapy ; Immunologic Factors ; administration & dosage ; pharmacology ; Infant, Newborn ; 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

PURPOSE:Primary immunodeficiency diseases are disorders in which part of the body's immune system is missing or does not function properly due to intrinsic defects in the immune system. These patients have an increased susceptibility to pulmonary complications as well as primary infections. This study was to investigate pulmonary complications in patients with primary immunodeficiency diseases and characterize their patterns according to specific immune defects. METHODS:We retrospectively reviewed the medical records of 37 different cases of primary immunodeficiency diseases that were admitted to Severance hospital in Seoul between 1990 and 2006. RESULTS:Many patients had a previous history of recurrent respiratory infections and some suffered from pulmonary complications. Eight patients with hypogammaglobulinemia showed peribronchial wall thickening or bronchiectasis, and pneumatoceles or emphysematous changes were characteristic complications in two patients with hyper IgE syndrome. On microbiological examination, various bacteria, including Staphylococcus aureus, Pseudomonas aeroginosa, Streptococcus pneumoniae, were isolated from the hypogammaglobulinemia patients' sputum or ear discharge. In some patients with cell-mediated immune defects, such as chronic granulomatous disease or severe combined immune deficiency, yeast and ameba were isolated from the sputum and bronchial washing fluid respectively. CONCLUSION:Infections account for most of these complications, but the host reaction to infection seems to cause characteristic findings that could be helpful for diagnosis. The physician should be alert for the early diagnosis of children with primary immunodeficiency in order to prevent pulmonary complications.
Agammaglobulinemia ; Amoeba ; Bacteria ; Bronchiectasis ; Child ; Diagnosis ; Ear ; Early Diagnosis ; Granulomatous Disease, Chronic ; Humans ; Immune System ; Immunologic Deficiency Syndromes ; Job Syndrome ; Lung Diseases ; Medical Records ; Pseudomonas ; Respiratory Tract Infections ; Retrospective Studies ; Seoul ; Sputum ; Staphylococcus aureus ; Streptococcus pneumoniae ; Yeasts