StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	25662009	McDermott DH, Gao JL, Liu Q, Siwicki M, Martens C, Jacobs P, Velez D, Yim E, Bryke CR, Hsu N, Dai Z, Marquesen MM, Stregevsky E, Kwatemaa N, Theobald N, Long Priel DA, Pittaluga S, Raffeld MA, Calvo KR, Maric I, Desmond R, Holmes KL, Kuhns DB, Balabanian 	Chromothriptic cure of WHIM syndrome	Cell	2015 Feb	2	WHIM syndrome	Next Generation Sequencing	Homo sapiens	WHIM-09	Illumina HiSeq 2000	chr2:9500000-22000000:-1;chr2:24000000-26000000:-1;chr2:102000000-106000000:-1;chr2:132000000-133500000:-1;chr2:134000000-137000000:-1;chr2:155000000-157000000:-1;chr2:158000000-165000000:-1	hs2:9650469-9650469,hs2:92323543-92323543,HH;hs2:26227289-26227289,hs2:102167978-102167978,TT;hs2:102168450-102168450,hs2:156704625-156704625,HT;hs2:157479872-157479872,hs2:134383040-134383040,HH;hs2:134379440-134379440,hs2:18013669-18013669,TT;hs2:18014058-18014058,hs2:137413687-137413687,HH;hs2:137402471-137402471,hs2:155186295-155186295,TH;hs2:137413696-137413696,hs2:134383068-134383068,TT;hs2:134384129-134384129,hs2:134208472-134208472,HH;hs2:133712996-133712996,hs2:132361705-132361705,TH;hs2:106220579-106220579,hs2:24238501-24238501,TH;hs2:22647206-22647206,hs2:137344145-137344145,TT;hs2:137350425-137350425,hs2:92314297-92314297,HT;hs2:102176282-102176282,hs2:13364053-13364053,HH;hs2:13332820-13332820,hs2:133689046-133689046,TT;hs2:133712975-133712975,hs2:134248797-134248797,HH;hs2:134208529-134208529,hs2:164835205-164835205,TT	ACMSD;ACVR1;ACVR1C;ADAM17;ADCY3;ANKRD30BL;APOB;ASXL2;ATP6V1C2;BAZ2B;C2orf27A;C2orf27B;C2orf43;C2orf44;C2orf48;C2orf49;C2orf50;C2orf84;CCDC148;CCNT2;CD302;CENPO;CXCR4;CYS1;CYTIP;DAPL1;DARS;DDX1;DNAJC27;DNAJC27-AS1;DNMT3A;DPP4;DTNB;E2F6;EFR3B;ERMN;FAM49A;FAM84A;FAP;FHL2;FIGN;FKBP1B;FLJ12334;FLJ33534;GALNT13;GALNT5;GCA;GCG;GDF7;GEN1;GPR39;GPR45;GREB1;GRHL1;HPCAL1;HS1BP3;IFIH1;IL18R1;IL18RAP;IL1R1;IL1R2;IL1RL1;IL1RL2;ITGB6;ITSN2;KCNF1;KCNH7;KCNJ3;KCNS3;KIF3C;KLF11;LAPTM4A;LCT;LOC100129961;LOC100144595;LOC100287010;LOC100506421;LOC100506474;LOC100507600;LOC150568;LOC284998;LOC285000;LOC375190;LOC554201;LOC645949;LPIN1;LY75;LY75-CD302;LYPD1;MAP4K4;MARCH7;MATN3;MCM6;MFSD2B;MFSD9;MGAT5;MIR128-1;MIR1301;MIR3125;MIR3679;MIR4261;MIR4262;MIR4429;MIR4757;MIR4772;MIR4785;MIR663B;MRPS9;MSGN1;MYCN;MYCNOS;NBAS;NCKAP5;NCOA1;NOL10;NT5C1B;NT5C1B-RDH14;NTSR2;ODC1;OSR1;PDIA6;PFN4;PKP4;PLA2R1;POMC;POTEKP;POU3F3;PQLC3;PSMD14;PTRHD1;PUM2;R3HDM1;RAB3GAP1;RAD51AP2;RBMS1;RDH14;RHOB;ROCK2;RRM2;SDC1;SF3B14;SLC4A10;SLC9A2;SLC9A4;SMC6;SNORA80B;TAF1B;TANC1;TANK;TBR1;TGFBRAP1;TMEM163;TMEM182;TP53I3;TRIB2;TTC32;UBXN4;UPP2;VSNL1;WDR35;WDSUB1;YSK4;YWHAQ;ZRANB3	Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA	Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a case in which chromothripsis spontaneously cured a patient with WHIM syndrome, an autosomal dominant combined immunodeficiency disease caused by gain-of-function mutation of the chemokine receptor CXCR4. In this patient, deletion of the disease allele, CXCR4(R334X), as well as 163 other genes from one copy of chromosome 2 occurred in a hematopoietic stem cell (HSC) that repopulated the myeloid but not the lymphoid lineage. In competitive mouse bone marrow (BM) transplantation experiments, Cxcr4 haploinsufficiency was sufficient to confer a strong long-term engraftment advantage of donor BM over BM from either wild-type or WHIM syndrome model mice, suggesting a potential mechanism for the patient's cure. Our findings suggest that partial inactivation of CXCR4 may have general utility as a strategy to promote HSC engraftment in transplantation.	GRCh37/hg19				No	MFSD2B,LOC258000;POTEKP,NCKAP5