ABSTRACT
BACKGROUND: Hyper-IgM syndronie (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrey bacterial infrctions, normal or elevated serum IgM levels and low or absent serum IgG, IgA and IgE. AIM: To make definitive diagnosis, detect mutations in carriers and perform genetic counseling in patients with HIGM. PATIENTS AND METHODS: We studied the expression of CD40L, CD40 and made a mutation analysis of the CD40L gene in 3 males of 2 unrelated Chilean families diagnosed as a possible syndrome of hyper-IgM and 3 relatives. RESULTS: We identified a deletion frameshift in the exon 2 (delA225) of the extracellular domain of GD40L gene in one patient and verified the carrier stains of his mother and sister. The other patients showed a low expression of GD40L in activated T cells (65.3% ammd 65.5%) and a normal expressiomi of CD40. No alterations were found in the single strand conformation polymorphism analysis of the CD40L. CONCLUSIONS: These result allowed us to make a definite diagnosis of HIGM1 of a patient, detect female carriers and suggest a HIGM of recessive inheritance with normal CD40 expression in the patients of the second family.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , CD40 Ligand , Hypergammaglobulinemia/genetics , Immunoglobulin M/genetics , Frameshift Mutation/genetics , CD40 Ligand , Genetic Counseling , Chile , Hypergammaglobulinemia/diagnosis , Immunoglobulin M/blood , Tumor Necrosis Factor Receptor-Associated Peptides and Proteins , SyndromeABSTRACT
A study of epidemic transmission of Chikungunya virus (CHIK) was initiated in April 1999 in Yogyakarta, Indonesia. Three hundred seventeen volunteers from three kelurahans (sub-districts) were recruited. Anti-CHIK IgG antibodies were detected in 68% to 74% of cases and 28% to 32% of controls. In the kelurahan with no reported CHIK illness, 29% of cases and 28% of controls had anti-CHIK IgG antibodies. None of these cases demonstrated anti-CHIK IgM antibodies. In the two kelurahans with disease activity, anti-CHIK IgM antibodies were detected in 3% to 36% of cases, with the highest percentage from the kelurahan with recently reported cases. Ten percent of controls from Gowok had anti-CHIK IgM detected in their serum. Twelve acutely ill volunteers were later included from the kelurahan Pilahan for virus identification. Samples from two volunteers were culture- and RT-PCR-positive for CHIK. This is the first documentation of epidemic transmission of CHIK in Indonesia since 1982.
Subject(s)
Adult , Alphavirus Infections/blood , Antibodies, Viral/genetics , Chikungunya virus/immunology , Disease Outbreaks , Female , Humans , Immunoglobulin G/genetics , Immunoglobulin M/genetics , Indonesia/epidemiology , Male , Reverse Transcriptase Polymerase Chain Reaction , Seroepidemiologic StudiesABSTRACT
Hemolytic disease of the newborn develops mainly when an Rh negative (D-) mother becomes sensitized and produces anti-Rh possitve (anti-D) antibodies capable of hemolysing D+ fetal erythrocytes. Maternal alloimmunization can be prevented by the administration of anti-D gamma-globulin immediately after the birth of each Rh positive child. In order to identify the frequency of prevention of alloimmunization at the Instituto Mexicano del Seguro Social(IMSS), the amount of mothers at risk of sensitization from 1985 to 1995 was estimated from Rh and ABO blood group frequencies and with the number of deliveries and abortions at the Medical Institutions. Also, information in regard to the dose of gamma-globulin units purchased by the Institute of Social Security from 1985 to 1993 was obtained. The number of mothers at risk stedily increased from 16,616 in 1985 to 21,071 in 1995, amounting to a total of 203,203 in the 10-year period, while only 120,800 gamma-globulin units were purchased in that same period. The findings in this study suggest the need to define reasonable policies for the acquisition of gamma-globulin lots to prevent alloisoimmunization of mothers at risk