Jobs syndrom
En neutrofilstörning kännetecknad av onormala eller saknade kemotaxireaktioner och hyperimmunglobulinemi E. Sjukdomen överförs som ett autosomalt recessivt drag, och de flesta rapporterade fall har varit flickor.
Förklaring på engelska
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
Synonym, svenska:
Synonym, engelska: Job Syndromes; Syndrome, Job; Syndromes, Job; Hyperimmunoglobulin E, Recurrent Infection Syndrome; Hyperimmunoglobulinemia E Syndrome; Hyperimmunoglobulinemia E Syndromes; HIE Syndrome; HIE Syndromes; Hyper-IgE Syndrome; Hyper IgE Syndrome; Hyper-IgE Syndromes; Buckley Syndrome; Buckley Syndromes; Job-Buckley Syndrome; Job Buckley Syndrome; Job-Buckley Syndromes; Hyperimmunoglobulin E-Recurrent Infection Syndrome; Hyperimmunoglobulin E Recurrent Infection Syndrome; Job’s Syndrome; Jobs Syndrome; Hyper-Immunoglobulin E Syndrome, Autosomal Recessive; Hyper Immunoglobulin E Syndrome, Autosomal Recessive; HIES, Autosomal Recessive; Autosomal Recessive HIES; Autosomal Recessive HIESs; HIESs, Autosomal Recessive; Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper-IgE Syndrome, Autosomal Recessive; Hyper IgE Syndrome, Autosomal Recessive; Hyper-Immunoglobulin E Syndrome, Autosomal Dominant; Hyper Immunoglobulin E Syndrome, Autosomal Dominant; HIES, Autosomal Dominant; Autosomal Dominant HIES; Autosomal Dominant HIESs; HIESs, Autosomal Dominant; Hyper-IgE Syndrome, Autosomal Dominant; Hyper IgE Syndrome, Autosomal Dominant
| Svensk term | Jobs syndrom |
| Synonym på svenska | |
| Synonym på engelska | Job Syndromes; Syndrome, Job; Syndromes, Job; Hyperimmunoglobulin E, Recurrent Infection Syndrome; Hyperimmunoglobulinemia E Syndrome; Hyperimmunoglobulinemia E Syndromes; HIE Syndrome; HIE Syndromes; Hyper-IgE Syndrome; Hyper IgE Syndrome; Hyper-IgE Syndromes; Buckley Syndrome; Buckley Syndromes; Job-Buckley Syndrome; Job Buckley Syndrome; Job-Buckley Syndromes; Hyperimmunoglobulin E-Recurrent Infection Syndrome; Hyperimmunoglobulin E Recurrent Infection Syndrome; Job’s Syndrome; Jobs Syndrome; Hyper-Immunoglobulin E Syndrome, Autosomal Recessive; Hyper Immunoglobulin E Syndrome, Autosomal Recessive; HIES, Autosomal Recessive; Autosomal Recessive HIES; Autosomal Recessive HIESs; HIESs, Autosomal Recessive; Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive; Hyper-IgE Syndrome, Autosomal Recessive; Hyper IgE Syndrome, Autosomal Recessive; Hyper-Immunoglobulin E Syndrome, Autosomal Dominant; Hyper Immunoglobulin E Syndrome, Autosomal Dominant; HIES, Autosomal Dominant; Autosomal Dominant HIES; Autosomal Dominant HIESs; HIESs, Autosomal Dominant; Hyper-IgE Syndrome, Autosomal Dominant; Hyper IgE Syndrome, Autosomal Dominant |
| Engelsk term | Job Syndrome |
| MESH ID | D007589 |