| D007589 |
Job Syndrome |
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. |
HIES, Autosomal Recessive,Hyper-IgE Syndrome, Autosomal Recessive,Hyper-Immunoglobulin E Syndrome, Autosomal Recessive,Hyperimmunoglobulin E-Recurrent Infection Syndrome,Job's Syndrome,Buckley Syndrome,HIE Syndrome,HIES, Autosomal Dominant,Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive,Hyper-IgE Syndrome,Hyper-IgE Syndrome, Autosomal Dominant,Hyper-Immunoglobulin E Syndrome, Autosomal Dominant,Hyperimmunoglobulin E, Recurrent Infection Syndrome,Hyperimmunoglobulinemia E Syndrome,Job-Buckley Syndrome,Autosomal Dominant HIES,Autosomal Dominant HIESs,Autosomal Recessive HIES,Autosomal Recessive HIESs,Buckley Syndromes,HIE Syndromes,HIESs, Autosomal Dominant,HIESs, Autosomal Recessive,Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive,Hyper IgE Syndrome,Hyper IgE Syndrome, Autosomal Dominant,Hyper IgE Syndrome, Autosomal Recessive,Hyper Immunoglobulin E Syndrome, Autosomal Dominant,Hyper Immunoglobulin E Syndrome, Autosomal Recessive,Hyper-IgE Syndromes,Hyperimmunoglobulin E Recurrent Infection Syndrome,Hyperimmunoglobulinemia E Syndromes,Job Buckley Syndrome,Job Syndromes,Job-Buckley Syndromes,Jobs Syndrome,Syndrome, Job,Syndromes, Job |
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| D008297 |
Male |
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Males |
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| D009504 |
Neutrophils |
Granular leukocytes having a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. |
LE Cells,Leukocytes, Polymorphonuclear,Polymorphonuclear Leukocytes,Polymorphonuclear Neutrophils,Neutrophil Band Cells,Band Cell, Neutrophil,Cell, LE,LE Cell,Leukocyte, Polymorphonuclear,Neutrophil,Neutrophil Band Cell,Neutrophil, Polymorphonuclear,Polymorphonuclear Leukocyte,Polymorphonuclear Neutrophil |
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| D010585 |
Phagocyte Bactericidal Dysfunction |
Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. |
Bactericidal Dysfunction, Phagocyte,Bactericidal Dysfunctions, Phagocyte,Dysfunction, Phagocyte Bactericidal,Dysfunctions, Phagocyte Bactericidal,Phagocyte Bactericidal Dysfunctions |
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| D010587 |
Phagocytosis |
The engulfing and degradation of microorganisms; other cells that are dead, dying, or pathogenic; and foreign particles by phagocytic cells (PHAGOCYTES). |
Phagocytoses |
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| D002609 |
Chediak-Higashi Syndrome |
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. |
Chediak-Steinbrinck-Higashi Syndrome,Oculocutaneous Albinism with Leukocyte Defect,Chediak Higashi Syndrome,Chediak Steinbrinck Higashi Syndrome,Chediak-Steinbrinck-Higashi Syndromes |
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| D002648 |
Child |
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. |
Children |
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| D004705 |
Endocytosis |
Cellular uptake of extracellular materials within membrane-limited vacuoles or microvesicles. ENDOSOMES play a central role in endocytosis. |
Endocytoses |
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| D005260 |
Female |
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Females |
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| D006105 |
Granulomatous Disease, Chronic |
A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. |
Autosomal Recessive Chronic Granulomatous Disease,Chronic Granulomatous Disease,Chronic Granulomatous Disease, Atypical,Chronic Granulomatous Disease, X-Linked,Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked,Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked,Granulomatous Disease, Chronic, X-Linked,Granulomatous Disease, Chronic, X-Linked, Variant,X-Linked Chronic Granulomatous Disease,Chronic Granulomatous Disease, X Linked,Chronic Granulomatous Diseases,Granulomatous Diseases, Chronic,X Linked Chronic Granulomatous Disease |
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