JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family

Journal of Clinical Immunology

Volumn 35, Issue 4, 2015, Pages 339-343

  Baris, S ^a   Karakoc Aydiner E ^a   Ozen, A ^a   Delil, K ^a   Kiykim, A ^a   Ogulur, I ^a   Baris, I ^b   Barlan, I B ^a  

^a MARMARA UNIVERSITY   (Turkey)

^b KOÇ UNIVERSITY   (Turkey)

Author keywords

Clinical features; JAGN1; severe congenital neutropenia

Indexed keywords

CD16 ANTIGEN; CD19 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD56 ANTIGEN; CD8 ANTIGEN; GRANULOCYTE COLONY STIMULATING FACTOR; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; THYROGLOBULIN ANTIBODY; JAGN1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ABSCESS; ADOLESCENT; ADULT; AMELOGENESIS IMPERFECTA; ARTICLE; BONE MARROW BIOPSY; BRONCHIECTASIS; CASE REPORT; CD4+ T LYMPHOCYTE; CERVICAL LYMPHADENOPATHY; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; CRYPTORCHISM; DIARRHEA; EXON; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; FLOW CYTOMETRY; FOLLOW UP; GENE; GENE SEQUENCE; GINGIVA HYPERTROPHY; GINGIVITIS; GROWTH RETARDATION; HEPATOMEGALY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPOSPADIAS; HYPOTHYROIDISM; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPHENOTYPING; JAGN1 GENE; LEARNING; LEARNING DISORDER; LUNG INFILTRATE; LYMPHOCYTOPENIA; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MONOCYTOSIS; NEUTROPHIL; NEUTROPHIL COUNT; OTITIS; PHYSICAL EXAMINATION; PNEUMONIA; PRIORITY JOURNAL; PROMYELOCYTE; PROTEIN FUNCTION; SEVERE CONGENITAL NEUTROPENIA; SHORT STATURE; SIBLING; SKIN ABSCESS; THYROID FUNCTION TEST; VERBAL COMMUNICATION; YOUNG ADULT; DEFICIENCY; DNA MUTATIONAL ANALYSIS; GENETICS; HOMOZYGOTE; INFANT; MUTATION; NEUTROPENIA; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; NEUTROPENIA; PEDIGREE; PHENOTYPE; SIBLINGS;

EID: 84929838024     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0156-2     Document Type: Article

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