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Ataxia Telangiectasia

Definitive Male or female patient with either increased radiation induced chromosomal breakage in cultured cells, or progressive cerebellar ataxia, who...
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Diagnostic Criteria PID

Here is a list of various PID with clearly established diagnostic criteria.
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*Important announcement* StemPAD study

A study on the outcome of transplant for antibody deficiency and CVID in collaboration with EBMT Inborn Errors WP and ESID BMT and Clinical WP.
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Chest CT in antibody deficiency: Updated CRF

The Chest CT in Antibody Deficiency Group ( www.chest-ct-group.eu) has updated its documentation sheet.
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Chronic Granulomatous Disease

Definitive Male or female patient with abnormal NBT or respiratory burst in activated neutrophils (less than 5% of control) who has one of the following:...
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