All individuals with variants in gene XK

40 entries on 1 page. Showing entries 1 - 40.
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00143754 19449031-PatCo3 PubMed: Oshima 2009 familial case, carrier mother M - United States - - - - - - male fetus 1 1 Johan den Dunnen
00143803 22383943-Pat3 PubMed: Arai 2012 carrier mother M - Japan - - - - - CGD reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK 1 1 Johan den Dunnen
00143804 22383943-Pat4 PubMed: Arai 2012 mother not a carrier M - Japan - - - - - CGD reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK 1 1 Johan den Dunnen
00143805 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - - - - CGD history of increased susceptibility to infection at the clinical diagnosis CGD; 11y-increased susceptibility to infection, marked reduction in ROS productivity (0.05) 1 1 Johan den Dunnen
00172885 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00431390 patient PubMed: Bi 2023 2-generation family, 1 affected, unaffected carrier mother/sister M - China - 00y03m - - - ? see paper; ..., 3m-deceased (fulminant infection); 41w+1 birth Cesarean section macrosomia; 19d neonatal sepsis, soft/flat anterior fontanelle, mild tachypnea, clear air entry, heart rate 145 beats/min, no hepatosplenomegaly, full range motion four limbs, normoactive bowel sound; raised CK level, decreased gp91 expression, positive nitroblue tetrazolium test 1 1 Johan den Dunnen
00431392 Pat1 PubMed: Peng 2007 2-generation family, 2 affected brothers, unaffected carrier mother M - United States - - - - - MCLDS see paper; ..., 30y-acanthocytosis, McLeod Kell phenotype; 50y-problems walking, leg weakness; 55y-seizure; 56y-occasional auras, tongue biting, bruxism, leg restlessness, memory problems, very mild leg chorea, speech mildly dysarthric, power/tone diminished throughout, deep tendon reflexes absent 1 2 Johan den Dunnen
00431393 Pat2 PubMed: Peng 2007 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - CGD see paper; ..., 4m-seizure-like activity requiring hospitalization, skin infection groin, mpetigo; mild elevation transaminases, hepatosplenomegaly; chronic granulomatous disease 1 1 Johan den Dunnen
00431540 Pat3 PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - CGDX - 1 1 Johan den Dunnen
00431543 Pat4 PubMed: Arai 2012 family, 1 affected M - Japan - - - - - CGDX - 1 1 Johan den Dunnen
00431544 Pat5(A1445) PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - CGDX - 1 1 Johan den Dunnen
00431549 Pat1 PubMed: Yamada 2010 - M no Japan - - - - - ? 36h-generalized seizure resulting in cardiac arrest; high blood ammonia; liver biopsy elevated urine orotic acid, markedly reduced OTC activity; recurrent perianal abscesses, infancy lymphadenitis, 3y-pelvic abscess; acanthocytosis; no retinitis pigmentosa 1 1 Johan den Dunnen
00431550 Pat2 PubMed: Yamada 2010 2-generation family, 2 affected brothers, unaffected carrier mother M - Japan - - - - - CGDX recurrent perianal abscesses and pneumonia, chronic granulomatous disease; brother died from Pseudomonas aeruginosa septicemia 1 2 Johan den Dunnen
00431976 Pat23(A1446) PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - CGD see paper; ... 1 1 Johan den Dunnen
00432819 Pat100 PubMed: Gao 2019 - M - China - - - - - CGD - 1 1 Johan den Dunnen
00432820 Pat101 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - CGD - 1 1 Johan den Dunnen
00433024 Pat20 PubMed: Martel 2012 2-generation family, non-carrier mother M - France - - - - - CGD - 1 1 Johan den Dunnen
00433025 Pat21 PubMed: Martel 2012 2-generation family, heterozygous carrier mother M - France - - - - - CGD - 1 1 Johan den Dunnen
00437160 D687 PubMed: Kekou 2023 contiguous gene syndrome M - Greece - - - - - BMD/DMD, CGD, MCLDS chronic granulomatous disease, elevated CK (15,000 IU/L) 1 1 Johan den Dunnen
00460680 family PubMed: Blackstone 2025 3-generation family, 6 affected (6M), 2 unaffected carrier females M - United States - 12y - - - MD see paper; ..., 12y-deceased (cardiac arrest); gross motor delays, raised creatine kinase level; unusually rapid progression dilated cardiomyopathy 1 1 Johan den Dunnen
00460867 Pat1;Pat1;Pat1;Pat1;Pat1;Pat17 PubMed: Danek 1990, PubMed: Witt 1992, PubMed: Danek 2001, PubMed: Danek 1994, PubMed: Oechsner 2001, PubMed: Danek 2001 - M - Germany - - - - - MCLDS see paper; ..., 62y-deceased, acanthocytosisatrial fibrillation 1 1 Johan den Dunnen
00460868 Pat2;FamPat5 PubMed: Bertelson 1988, PubMed: Danek 2001 family, 2 affected brothers M - - - - - - - MCLDS see paper; ..., acanthocytosis, Kell antigen McLeod phenotype 1 2 Johan den Dunnen
00460869 Pat1;FamPat6 PubMed: Bertelson 1988, PubMed: Danek 2001 brother M - - - - - - - MCLDS see paper; ..., acanthocytosis, Kell antigen McLeod phenotype 1 1 Johan den Dunnen
00460870 Pat13 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, splenomegaly 1 1 Johan den Dunnen
00460871 PatLIII4;Pat2 PubMed: Hardie 1991, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, movement disorder, family investigation 1 1 Johan den Dunnen
00460872 Pat2;Pat6;Pat1 PubMed: Oechsner 2001, PubMed: Danek 2001, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, muscle fatigue 1 1 Johan den Dunnen
00460873 Pat20 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, seizure 1 1 Johan den Dunnen
00460874 Pat22 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, seizure 1 1 Johan den Dunnen
00460875 Pat21 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, Kell antigen McLeod phenotype 1 1 Johan den Dunnen
00460876 PatiIII8;Pat14 PubMed: Malandrini 1994, PubMed: Danek 2001 family, 3 affected (3M) M - - - - - - - MCLDS see paper; ..., 55y-deceased, acanthocytosis, movement disorder, depression 1 3 Johan den Dunnen
00460877 patient;Pat15 PubMed: Dotti 2000, PubMed: Danek 2001 - M - Italy - - - - - MCLDS see paper; ..., 56y-deceased, acanthocytosis, movement disorder 1 1 Johan den Dunnen
00460878 Pat23 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., 1 1 Johan den Dunnen
00460879 Pat18 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, movement disorder 1 1 Johan den Dunnen
00460880 Pat19 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, seizure, movement disorder 1 1 Johan den Dunnen
00460881 PatFD9 PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., Kell antigen McLeod phenotype 1 1 Johan den Dunnen
00460882 Pat4;FamPat9 PubMed: Danek 2001, PubMed: Danek 2001 family, 2 affected brothers M - - - - - - - MCLDS see paper; ..., acanthocytosis, muscle fatigue, movement disorder 1 2 Johan den Dunnen
00460883 Pat5;FamPat10 PubMed: Danek 2001, PubMed: Danek 2001 brother M - - - - - - - MCLDS see paper; ..., acanthocytosis, family investigation 1 1 Johan den Dunnen
00460884 PatED9 PubMed: Swash 1983, PubMed: Carter 1990, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., Kell antigen McLeod phenotype 1 1 Johan den Dunnen
00460885 Pat11 PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, movement disorder 1 1 Johan den Dunnen
00460886 Pat3;Pat12 PubMed: Danek 2001, PubMed: Danek 2001 - M - - - - - - - MCLDS see paper; ..., acanthocytosis, disruptive behavior, movement disorder 1 1 Johan den Dunnen
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