Hyper IgM syndrom : Kliniske karakteristika

Abstract

Abstract

The Hyper-IgM Syndrome (HIGM) is a rare primary immunodeficiency disorder encopassing multiple subclasses categorised by different defects on the gene level. Patients suffering from HIGM have increased tendency of infections in addition to other manifestations. The immunoglobulin pattern shows decreased values of IgG and IgA and normal or increased values of IgM. The purpose of this study is to define clinical characteristics from Norwegian HIGM-patients.

Data was collected by extracting relevant medical recordings from the journals of eleven Norwegian HIGM-patients.

Eight patients are alive today. Six out of eleven have a negative family history of immunodeficiency. The most common subclass is CD40L-deficiency (6/11). There are more men (8) than women (3) in the group. The first symptom of the immunodeficiency disorder was an increased tendency of infections within the first years of life. Respiratory tract infections were most common, and in two cases, Pneumocystis jerovicii pneumonia occurred. Four patients developed failure to thrive during the first year of life. No other typical patterns considering height/weight were found. The most common respiratory tract infections were pneumonia (37 occurrences), sinusitis (9) and tonsilitis (8). Other common infections were diarrhoea (12) and otitis (10). One of the patients have developed a cryptosporidiosis. Splenomegaly and glandular swelling occurred in five cases, while four patients developed hepatomegaly. No cases of lymphomas were found. The immunoglobulin patterns vary within the group. Seven patients developed neutropenia, three anaemia and one thrombocytopenia.

These findings are in agreement with data from international studies executed on larger groups of HIGM-patients.