All individuals with variants in gene NFKBIA

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     
ID_report     
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Remarks     
Gender     
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VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
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00207572 patient PubMed: Lopez-Granados 2008 2-generation family, 1 affected, unaffected non-carrier parents M no United States white - - - - EDAID see paper; ..., failure to thrive, recurrent pyogenic bacterial infections, oral candidiasis, PCP pneumonia, severe immunodeficiency 1 1 Johan den Dunnen
00433101 Pat77,1 PubMed: Stray-Pedersen 2017 - F - Chile - 5y - - - IMD defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency 1 1 Johan den Dunnen
00472432 patient PubMed: Ohnishi 2012 2-generation family, 1 affected, unaffected parents M - Japan - - - - - EDAID see paper; ...5m-dysmorphism; poor body temperature regulation, anhidrosis; 1m-recurrent infections 1 1 Johan den Dunnen
00472433 patient PubMed: McDonald 2007 2-generation family, 1 affected, unaffected non-carrier mother F - United States - - - - - EDAID see paper; ..., 2m-recurrent pneumonia; bronchiectasis; 10y-no bacteremia, no mycobacterial infections; slightly thin hair, recessed hairline, pegged teeth, coarse skin, heat intolerant, unable to sweat 1 1 Johan den Dunnen
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