Poorly characterised primary immune deficiency syndromes

There are a number of syndromes where susceptibility to certain types of infection is not associated with a clear pattern of inheritance and where the clinical picture is variable. Few are as severe as the specific syndromes referred to above. They include chronic mucocutaneous candidiasis, where there is persistent superficial skin and mucous membrane fungal infection, and where there may be defective T-cell regulation or dendritic cell function. CMC is also associated with a wide variety of autoimmune phenomena, particularly thyroid and adrenal disease, and different patterns of inheritance are seen in different kindreds.

There is also a heterogeneous group of disorders collectively referred to as common variable immunodeficiency. Defined by the clinical susceptibility to infection and in the absence of any other apparent cause, this collectively named syndrome is usually a diagnosis of exclusion and presents in adult life. Low rather than absent levels of several isotypes of Ig are usual, 411 and the condition is rarely life threatening.

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