Disease #03438

Official abbreviation IMD-31B
Name immunodeficiency, type 31B, mycobacterial and viral infections, autosomal recessive (IMD-31B)
OMIM ID 613796
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene STAT1
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Disease features -
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00080574 - {PMID12590259:Dupuis 2003} family, 1 affected F - Saudi Arabia - - 0 - - IMD-31B mycobacteriosis & viral infections STAT1 STAT1 1 1 Esther van de Vosse
00080575 - {PMID12590259:Dupuis 2003} family, 1 affected F - Saudi Arabia - - 0 - - IMD-31B mycobacteriosis & viral infection STAT1 STAT1 1 1 Esther van de Vosse
00080576 - {PMID16585605:Chapgier 2006a} family, 1 affected M yes Pakistan - - 0 - - IMD-31B mycobacteriosis & viral infection STAT1 STAT1 1 1 Esther van de Vosse
00080579 - {PMID19436109:Chapgier 2009} family, 2 affecteds M yes Israel - - 0 - - IMD-31B mycobacteriosis & viral infection STAT1 STAT1 1 2 Esther van de Vosse
00080585 - {PMID20841510:Kong 2010} family, 2 affecteds M - Saudi Arabia - - 0 - - IMD-31B mycobacteriosis & viral infections STAT1 STAT1 1 2 Esther van de Vosse
00080586 - {PMID21057861:Kristensen 2011} family, 1 affected F - (Denmark) - - 0 - - IMD-31B mycobacteriosis STAT1 STAT1 2 1 Johan den Dunnen
00080609 - {PMID21772053:Vairo 2011} family, 1 affected M yes Pakistan - - 0 - - IMD-31B Mycobacteriosis, viral infection & Aspergillus fumigatus STAT1 STAT1 1 1 Esther van de Vosse
00080616 - {PMID20962705:Averbuch 2011} {PMID24061272:Shamriz 2013} family, 2 affecteds M yes Israel islamic - 0 - - IMD-31B mycobacteriosis & viral infections & more STAT1 STAT1 1 2 Esther van de Vosse
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