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

Good's syndrome is extremely rare. This adult-onset condition is characterized by a thymoma with immunodeficiency, low B- and T-cell counts, and hypo-gammaglobulinemia. The initial clinical presentation is either a mass-lesion thymoma or a recurrent infection. Patients with Good's syndrome are very susceptible to infections; common respiratory and opportunistic infections can be life-threatening. There are no reports of granulomatous lung disease in patients with Good's syndrome, although it has been observed in patients with common variable immunodeficiency, of which Good's syndrome is a subset. We describe a 53-year-old male thymoma patient who presented with respiratory symptoms caused by granulomatous lung disease and an opportunistic infection. He died of uncontrolled fungal infection despite repeated intravenous immunoglobulin and supportive care. Clinicians should look for evidence of immunologic dysfunction in thymoma patients presenting with severe recurrent infections, especially opportunistic infections.
Fatal Outcome ; Granuloma, Respiratory Tract/diagnosis/*etiology/therapy ; Humans ; Immunologic Deficiency Syndromes/*complications/immunology/pathology ; Lung Diseases/diagnosis/*etiology/therapy ; Male ; Middle Aged ; Thymoma/*complications/immunology/pathology ; Thymus Neoplasms/*complications/immunology/pathology