Immune Deficiency Diseases

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Immune Deficiency ◽  
Differential Diagnosis ◽  
Granulomatous Disease ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Mucocutaneous Candidiasis ◽  
Griscelli Syndrome ◽  
Deficiency Diseases ◽  
Job Syndrome ◽  
Mode Of Inheritance

Chapter 14 covers Chediak-Higashi Disease, Chronic Granulomatous Disease, Epidermodysplasia Verruciformis, Familial Mucocutaneous Candidiasis, Griscelli Syndrome Types 1, 2, and 3, Job Syndrome, Mucoepithelial Dysplasia, and Wiskott-Aldrich Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Immune Deficiency Diseases

2012 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Immune Deficiency ◽  
Chronic Granulomatous Disease ◽  
Epidermodysplasia Verruciformis ◽  
Granulomatous Disease ◽  
Wiskott Aldrich Syndrome ◽  
Mucocutaneous Candidiasis ◽  
Griscelli Syndrome ◽  
Deficiency Diseases ◽  
Job Syndrome

Chediak-Higashi Disease – Chronic Granulomatous Disease – Epidermodysplasia Verruciformis – Familial Mucocutaneous Candidiasis – Griscelli Syndrome Types 1 and 2 – Job Syndrome – Mucoepithelial Dysplasia – Wiskott-Aldrich Syndrome

Lymphedema

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 7 covers Cholestasis-Lymphedema Syndrome, Distichiasis and Lymphedema, and Hereditary Lymphedema. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Urticaria

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Hereditary Angioedema ◽  
Urticaria Pigmentosa ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Cold Urticaria ◽  
Basic Defect ◽  
Wells Syndrome ◽  
Mode Of Inheritance

Chapter 8 covers Familial Cold Urticaria, Hereditary Angioedema, Melkersson-Rosenthal Syndrome, Muckle-Wells Syndrome, NOMID/CINCA, and Urticaria Pigmentosa. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Disorders of Subcutaneous Tissue

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Subcutaneous Tissue ◽  
Cerebrotendinous Xanthomatosis ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Partial Lipodystrophy ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 6 covers Cerebrotendinous Xanthomatosis, Familial Multiple Lipomatosis, Familial Symmetric Lipomatosis, Fibrodysplasia Ossificans Progressiva, Lipogranulomatosis, Partial Lipodystrophy, and Berardinelli-Seip Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Other Disorders

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 9 covers Congenital Erosive and Vesicular Dermatosis, Erythermalgia, Michelin Tire Baby, and Stiff Skin. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Photosensitivity

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Xeroderma Pigmentosum ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Polymorphous Light Eruption ◽  
Kindler Syndrome ◽  
Rothmund Thomson Syndrome ◽  
Hartnup Disorder ◽  
Mode Of Inheritance

Chapter 13 covers Bloom Syndrome, Hartnup Disorder, Kindler Syndrome, Polymorphous Light Eruption, Rothmund-Thomson Syndrome, and Xeroderma Pigmentosum. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Premature Aging

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Werner Syndrome ◽  
Cockayne Syndrome ◽  
Premature Aging ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 12 covers Cockayne Syndrome, De Barsy Syndrome, Hallermann-Streiff Syndrome, Hutchinson-Gilford Progeria, and Werner Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Genetic Skin Disorders

2012 ◽  
Author(s):  
Virginia Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Genetic Disorder ◽  
Recurrence Risk ◽  
Treatment Mode ◽  
Comprehensive Survey ◽  
Practical Tool ◽  
Molecular Information ◽  
Information Treatment ◽  
Mode Of Inheritance

This lavishly-illustrated resource represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, containing sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest.

Altered Fine Structure of B Lymphocytes Correlated with Defective Terminal Differentiation

1973 ◽  
Vol 31 ◽  
pp. 386-387
Author(s):  
Dale E. Bockman ◽  
L. Y. Frank Wu ◽  
Alexander R. Lawton ◽  
Max D. Cooper
Keyword(s):  
Immune Deficiency ◽  
B Lymphocytes ◽  
Plasma Cells ◽  
Present Report ◽  
Specific Antigen ◽  
Terminal Differentiation ◽  
Second Stage ◽  
Two Stages ◽  
Deficiency Diseases ◽  
Cell Line Generation

B-lymphocytes normally synthesize small amounts of immunoglobulin, some of which is incorporated into the cell membrane where it serves as receptor of antigen. These cells, on contact with specific antigen, proliferate and differentiate to plasma cells which synthesize and secrete large quantities of immunoglobulin. The two stages of differentiation of this cell line (generation of B-lymphocytes and antigen-driven maturation to plasma cells) are clearly separable during ontogeny and in some immune deficiency diseases. The present report describes morphologic aberrations of B-lymphocytes in two diseases in which second stage differentiation is defective.

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