A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities

Haematologica

Volumn 97, Issue 2, 2012, Pages 318-320

  Xue, Sheng Li ^a,b   Li, Jin Li ^a   Zou, Jing Ying ^c   Su, Jian ^b   Chen, Su Ning ^b   Wu, De Pei ^a,b  

^a Department of Hematology ^*  (China)

^b THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

^c MEDICAL COLLEGE OF SOOCHOW UNIVERSITY   (China)

Author keywords

Chronic myelomonocytic leukemia; Compound heterozygous mutation; Hax1; Severe congenital neutropenia

Indexed keywords

ADULT; CASE REPORT; CERVICAL LYMPHADENOPATHY; CHINESE; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLINICAL FEATURE; FEVER; GENE MUTATION; GENE PRODUCT; GINGIVITIS; HAX1 GENE; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; LETTER; MALE; MOUTH ULCER; NEUROLOGIC DISEASE; NEUTROPENIA; RECURRENT DISEASE; SEVERE CONGENITAL NEUTROPENIA; SPLENECTOMY; SPLENOMEGALY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ASIAN CONTINENTAL ANCESTRY GROUP; HUMANS; LEUKEMIA, MYELOMONOCYTIC, CHRONIC; MALE; MUTATION; NERVOUS SYSTEM DISEASES; NEUTROPENIA; PEDIGREE; YOUNG ADULT;

EID: 84863048008     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.055038     Document Type: Letter

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