Registry Working Party

List of diseases and genes

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This list gives an overview on the diseases in the Registry and available genes for each disease. Please, have also a look in the menu on the left at ESID Diagnosis criteria.

We try to keep this list up to date with the discoveries of new phenotypes and genes. If an entry is lacking, or you have any comments or suggestions please send us an email at and state the



IEI (PID) -diagnosis,

Gene-Name (optionaly type of mutation GOF/LOF) and

whether it is a genetic diagnosis only.

Please provide a reference, if possible.