Disease #05608 (SCID (immunodeficiency, severe combined (SCID)))

Official abbreviation SCID
Name immunodeficiency, severe combined (SCID)
OMIM ID -
Inheritance -
Individuals reported having this disease 33
Phenotype entries for this disease 31
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

33 entries on 1 page. Showing entries 1 - 33.
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00239198 PatAJ PubMed: Bozzi 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Lebanon - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239199 PatGM PubMed: Macchi 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - - 0 - - SCID see paper; ..., T- B+ SCID JAK3 JAK3 1 1 Johan den Dunnen
00239200 PatCM PubMed: Macchi 1995, PubMed: Villa 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - - 0 - - SCID see papr; ..., T- B+ SCID JAK3 JAK3 1 1 Johan den Dunnen
00239201 PatAP PubMed: Russell 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - 0 - - SCID see paper; ..., T- B+ NK- SCID JAK3 JAK3 2 1 Johan den Dunnen
00239202 PatLP PubMed: Candotti 1997 - - - Italy - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239203 PatLE PubMed: Candotti 1997 - - no Italy - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239204 PatCM PubMed: Villa 1996 - - yes Italy - - 0 - - SCID - JAK3 JAK3 1 1 Johan den Dunnen
00239205 PatVL PubMed: Candotti 1997 - - yes Italy - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239206 PatNK PubMed: Candotti 1997 - - yes Sweden - - 0 - - SCID - JAK3 JAK3 1 1 Johan den Dunnen
00239207 Pat PubMed: Gregoriou 2008 - M - Greece - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239209 P21 PubMed: Lee 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239210 - PubMed: Lee 2010 - - - China - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239212 Pat1/2 PubMed: Mella 2001 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Italy - - 0 - - SCID see paper; ... JAK3 JAK3 2 2 Johan den Dunnen
00239213 Pat8 PubMed: Mella 2001 - M yes - - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239214 Pat7 PubMed: Mella 2001 - M yes - - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239215 Pat9 PubMed: Mella 2001 - - no - - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239216 Pat5 PubMed: Mella 2001 - M no - - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239217 Pat6 PubMed: Mella 2001 - M - - - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239218 Pat4 PubMed: Mella 2001 - F no - - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239219 Pat3 PubMed: Mella 2001 - F no - - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239223 Pat PubMed: Mjannes 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239224 Pat3 PubMed: Roberts 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239225 Pat7 PubMed: Roberts 2004 - - yes United States - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239226 Pat4 PubMed: Roberts 2004 - - - United States - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239227 Pat6 PubMed: Roberts 2004 - - - United States - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239230 PatGaMi PubMed: Schumacher 2000 - - no Italy - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239231 PatPMC PubMed: Schumacher 2000 - - no Italy - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239232 PatSB PubMed: Schumacher 2000 - - yes United Kingdom (Great Britain) - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239233 PatLS PubMed: Schumacher 2000 - - no Italy - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239234 PatDR/PatMN PubMed: Schumacher 2000 2 related families - - Italy - - 0 - - SCID see paper; ... JAK3 JAK3 1 2 Johan den Dunnen
00239235 Pat1/2 PubMed: Tezcan 2005 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Turkey - - 0 - - SCID see paper; ... JAK3 JAK3 1 2 Johan den Dunnen
00239237 Pat PubMed: Uchiyama 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239239 Pat PubMed: Zhou 2001, PubMed: Roberts 2004 - F no United States - - 0 - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
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