Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency

Journal of Investigational Allergology and Clinical Immunology

Volumn 19, Issue 6, 2009, Pages 500-503

  Mamishi, S ^a   Esfahani, S A ^b   Parvaneh, N ^a   Diestelhorst, J ^c   Rezaei, N ^a,b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

HAX1; Infection; Mutation; Severe congenital neutropenia

Indexed keywords

ANTIBIOTIC AGENT; BINDING PROTEIN; COTRIMOXAZOLE; PROTEIN HAX1; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; GENE MUTATION; HAX1 DEFICIENCY; HUMAN; HUMAN TISSUE; INFANT; MALE; NEUTROPENIA; PROPHYLAXIS; PROTEIN DEFICIENCY; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA; SIBLING; TREATMENT RESPONSE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CANDIDIASIS; CELL DIFFERENTIATION; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; INFANT; MUTATION; MYELOID CELLS; NEUTROPENIA; ORAL ULCER; SIBLINGS;

EID: 74849119198     PISSN: 10189068     EISSN: 16980808     Source Type: Journal    
DOI: None     Document Type: Article

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