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

Official abbreviation SCID
Name immunodeficiency, severe combined (SCID)
OMIM ID -
Inheritance -
Individuals reported having this disease 42
Phenotype entries for this disease 40
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2019-06-06 16:10:12 +02:00 (CEST)
Date last edited N/A


Individuals

42 entries on 1 page. Showing entries 1 - 42.
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00239198 PatAJ PubMed: Bozzi 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Lebanon - - - - - 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 - - - - - 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 - - - - - 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 - - - - - SCID see paper; ..., T- B+ NK- SCID JAK3 JAK3 2 1 Johan den Dunnen
00239202 PatLP PubMed: Candotti 1997 - - - Italy - - - - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239203 PatLE PubMed: Candotti 1997 - - no Italy - - - - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239204 PatCM PubMed: Villa 1996 - - yes Italy - - - - - SCID - JAK3 JAK3 1 1 Johan den Dunnen
00239205 PatVL PubMed: Candotti 1997 - - yes Italy - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239206 PatNK PubMed: Candotti 1997 - - yes Sweden - - - - - SCID - JAK3 JAK3 1 1 Johan den Dunnen
00239207 Pat PubMed: Gregoriou 2008 - M - Greece - - - - - 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 - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239210 - PubMed: Lee 2010 - - - China - - - - - 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 - - - - - SCID see paper; ... JAK3 JAK3 2 2 Johan den Dunnen
00239213 Pat8 PubMed: Mella 2001 - M yes - - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239214 Pat7 PubMed: Mella 2001 - M yes - - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239215 Pat9 PubMed: Mella 2001 - - no - - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239216 Pat5 PubMed: Mella 2001 - M no - - - - - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239217 Pat6 PubMed: Mella 2001 - M - - - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239218 Pat4 PubMed: Mella 2001 - F no - - - - - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239219 Pat3 PubMed: Mella 2001 - F no - - - - - - 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 - - - - - 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 - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239225 Pat7 PubMed: Roberts 2004 - - yes United States - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239226 Pat4 PubMed: Roberts 2004 - - - United States - - - - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239227 Pat6 PubMed: Roberts 2004 - - - United States - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239230 PatGaMi PubMed: Schumacher 2000 - - no Italy - - - - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00239231 PatPMC PubMed: Schumacher 2000 - - no Italy - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239232 PatSB PubMed: Schumacher 2000 - - yes United Kingdom (Great Britain) - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239233 PatLS PubMed: Schumacher 2000 - - no Italy - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239234 PatDR/PatMN PubMed: Schumacher 2000 2 related families - - Italy - - - - - 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 - - - - - 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 - - - - - SCID see paper; ... JAK3 JAK3 1 1 Johan den Dunnen
00239239 Pat PubMed: Zhou 2001, PubMed: Roberts 2004 - F no United States - - - - - SCID see paper; ... JAK3 JAK3 2 1 Johan den Dunnen
00373334 - Journal: Strubbe 2021 - - ? - - - - - - SCID - DCLRE1C DCLRE1C 1 1 Marieke De Bruyne
00414615 patient PubMed: Stern 2021 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - SCID see paper; ..., temperature instability, hyperbilirubinemia, agranulocytosis, severe lymphopenia without associated anemia or thrombocytopenia RAC2 RAC2 1 1 Johan den Dunnen
00435477 - - - F yes Egypt - - - - - SCID Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation - NHEJ1 1 1 Rabab Elhawary
00449695 Pat1 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe - - - - SCID see paper; ..., failure to thrive; diarrhea; <7d-skin rash; recurrent infections; no systemic inflammation; no hepatomegaly; lymphadenopathy; alopecia; dysmorphic (overfolded helices, hypoplasia alea nasi, cone-shaped teeth, hypodontia); 12w-hematopoietic stem cell transplantation - CCNE1, FLG, PSMB10 3 1 Johan den Dunnen
00449696 Pat2 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Jew-Sepharadic 2y - - - SCID see paper; ..., 2y-deceased; failure to thrive; diarrhea; 14d-skin rash; recurrent infections; systemic inflammation; no hepatomegaly; no lymphadenopathy; alopecia; mild dysmorphic facial features (protruding ears, pointed chin), adducted left thumb, hypospadias, micropenis, dysplastic nails; 130w-hematopoietic stem cell transplantation - PSMB10, SLC30A5 2 1 Johan den Dunnen
00449697 Pat3 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe 16y - - - SCID see paper; ..., 16y-deceased; failure to thrive; diarrhea; 21d-skin rash; recurrent infections; no systemic inflammation; hepatomegaly; no lymphadenopathy; alopecia; no dysmorphism; 11w-hematopoietic stem cell transplantation - PSMB10 1 1 Johan den Dunnen
00449698 Pat4 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe 77d - - - SCID see paper; ..., 11w-deceased; failure to thrive; diarrhea; 7d-skin rash; recurrent infections; no systemic inflammation; hepatomegaly; no lymphadenopathy; alopecia; no dysmorphism; 16w-hematopoietic stem cell transplantation - PSMB10 1 1 Johan den Dunnen
00449699 Pat5 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe 4y - - - SCID see paper; ..., 4y-deceased; failure to thrive; diarrhea; 56d-skin rash; recurrent infections; no systemic inflammation; no hepatomegaly; lymphadenopathy; no dysmorphism; 12w-hematopoietic stem cell transplantation - PSMB10, TNFSF12 2 1 Johan den Dunnen
00449700 Pat6 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe - - - - SCID see paper; ..., no failure to thrive; diarrhea; <7d-skin rash; no recurrent infections; no systemic inflammation; no hepatomegaly; no lymphadenopathy; no alopecia; no dysmorphism; 9w-hematopoietic stem cell transplantation - PSMB10 1 1 Johan den Dunnen
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