Síndrome de Hiperinmunoglobulina E Autosómico Dominante

Epidemiología y Etiología

Epidemiología

• Incidencia: 1 in 500,000–100,000 al AL Amyloidosis año
• Los LOS Neisseria hombres y las mujeres se ven afectados por igual.

Etiología

• Se han descrito formas esporádicas y familiares con un patrón de herencia autosómico dominante
• El 60%–70% de los LOS Neisseria casos son causados por mutaciones en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el gen STAT3, responsable de la producción de una de las proteínas transductoras de señales y activadoras de la transcripción (STAT).
  • Las mutaciones conducen a la producción de una proteína STAT3 disfuncional (aunque se produce en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum cantidades normales) → respuesta inmune defectuosa
  • La proteína STAT3 disfuncional bloquea la maduración de las células inmunitarias, especialmente de las células Th17 Th17 A subset of helper-effector T-lymphocytes which synthesize and secrete interleukins il-17; il-17f; and il-22. These cytokines are involved in host defenses and tissue inflammation in autoimmune diseases. T cells: Types and Functions → disminución de los LOS Neisseria niveles de interferón-gamma e interleucina-17 → quimiotaxis anormal de los LOS Neisseria neutrófilos → alta susceptibilidad a las infecciones, especialmente a las bacterianas y fúngicas de los LOS Neisseria pulmones y la piel
  • La proteína STAT3 también interviene en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la formación de las células que construyen y descomponen el tejido óseo → anomalías esqueléticas y dentales
• La causa del otro 30%–40% de los LOS Neisseria casos es desconocida.
• Los LOS Neisseria pacientes con síndrome de hiper-IgE autosómico dominante (también conocido como síndrome de Job) también tienen niveles de IgE IgE An immunoglobulin associated with mast cells. Overexpression has been associated with allergic hypersensitivity. Immunoglobulins: Types and Functions anormalmente altos (causa desconocida) → eosinofilia
• Algunos síndromes similares al AL Amyloidosis de hiperinmunoglobulina E son causados ​​por mutaciones nulas homocigóticas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure TYK2 (tirosina quinasa 2) o DOCK8 (dedicador de la citocinesis 8), con un patrón de herencia autosómico recesivo.

Presentación Clínica

Los LOS Neisseria síntomas pueden ser evidentes al AL Amyloidosis nacer o manifestarse durante la infancia o la niñez temprana.

Los LOS Neisseria pacientes presentan diversas manifestaciones clínicas y anomalías:

• Rasgos faciales característicos: base y puente nasal anchos, ojos hundidos, protuberancia frontal, mejillas y mandíbula de proporciones irregulares, anomalías de la línea media, prognatismo y engrosamiento generalizado de la piel (conocido como “facies tosca”)
• Dental: falta de desprendimiento de los LOS Neisseria dientes primarios, lo que conlleva a una doble fila de dientes
• Esquelético: escoliosis, hiperextensibilidad articular, osteoporosis Osteoporosis Osteoporosis refers to a decrease in bone mass and density leading to an increased number of fractures. There are 2 forms of osteoporosis: primary, which is commonly postmenopausal or senile; and secondary, which is a manifestation of immobilization, underlying medical disorders, or long-term use of certain medications. Osteoporosis y fracturas recurrentes
• Ocular: xantelasma, desprendimiento de retina Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outermost layer is pigmented, whereas the inner nine layers are transparent. Eye: Anatomy, chalazión y estrabismo
• Respiratorio:infecciones pulmonares recurrentes (más a menudo por Staphylococcus aureus Staphylococcus aureus Potentially pathogenic bacteria found in nasal membranes, skin, hair follicles, and perineum of warm-blooded animals. They may cause a wide range of infections and intoxications. Brain Abscess, Streptococcus Streptococcus Streptococcus is one of the two medically important genera of gram-positive cocci, the other being Staphylococcus. Streptococci are identified as different species on blood agar on the basis of their hemolytic pattern and sensitivity to optochin and bacitracin. There are many pathogenic species of streptococci, including S. pyogenes, S. agalactiae, S. pneumoniae, and the viridans streptococci. Streptococcus pneumoniae y Haemophilus influenzae Haemophilus Influenzae A species of Haemophilus found on the mucous membranes of humans and a variety of animals. The species is further divided into biotypes I through viii. Haemophilus) provocan quistes llenos de aire (neumatoceles) en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria pulmones e insuficiencia respiratoria crónica.
• Dermatológicas: Las infecciones estafilocócicas son comunes, presentándose como erupciones tipo eczema, ampollas, descamación, llagas abiertas, prurito y abscesos “fríos” recurrentes (carecen de signos francos de inflamación).
• Inmunológico: mayor susceptibilidad a infecciones oportunistas (e.g., candidiasis Candidiasis Candida is a genus of dimorphic, opportunistic fungi. Candida albicans is part of the normal human flora and is the most common cause of candidiasis. The clinical presentation varies and can include localized mucocutaneous infections (e.g., oropharyngeal, esophageal, intertriginous, and vulvovaginal candidiasis) and invasive disease (e.g., candidemia, intraabdominal abscess, pericarditis, and meningitis). Candida/Candidiasis mucocutánea) con niveles muy elevados de anticuerpos IgE IgE An immunoglobulin associated with mast cells. Overexpression has been associated with allergic hypersensitivity. Immunoglobulins: Types and Functions y eosinofilia
• Cardiovascular: trombosis, ductus venoso congénito y aneurismas coronarios y aórticos
• Malignidades: linfomas, como el linfoma anaplásico de células grandes y el linfoma periférico de células T

Mnemotecnia

Una mnemotecnia útil de las manifestaciones clínicas del síndrome de hiperinmunoglobulina E autosómico dominante es FATED ( en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum inglés):

• F: Coarse or Leonine Facies (facies gruesa o leonina)
• A: Cold staph Abscesses (abscesos estafilocócicos fríos)
• T: Retianed primary Teeth (dientes primarios retenidos)
• E: Increased Ig Ig X-linked AgammaglobulinemiaE levels (aumento de los LOS Neisseria niveles de IgE IgE An immunoglobulin associated with mast cells. Overexpression has been associated with allergic hypersensitivity. Immunoglobulins: Types and Functions)
• D: Dermatologic problems (problemas dermatológicos (e.g., eczema Eczema Atopic dermatitis, also known as eczema, is a chronic, relapsing, pruritic, inflammatory skin disease that occurs more frequently in children, although adults can also be affected. The condition is often associated with elevated serum levels of IgE and a personal or family history of atopy. Skin dryness, erythema, oozing, crusting, and lichenification are present. Atopic Dermatitis (Eczema)))

Diagnóstico y Tratamiento

Diagnóstico

El diagnóstico del síndrome de hiperinmunoglobulina E autosómico dominante se basa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la evaluación clínica, especialmente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria antecedentes detallados del paciente y en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la identificación de los LOS Neisseria hallazgos característicos.

• Hallazgos de laboratorio:
  • Niveles elevados de IgE IgE An immunoglobulin associated with mast cells. Overexpression has been associated with allergic hypersensitivity. Immunoglobulins: Types and Functions (> 2 000 UI/mL): diagnóstico de síndrome de hiperinmunoglobulina E autosómico dominante
  • Eosinofilia en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el hemograma > 2 desviaciones estándar por encima de la media normal
• Las pruebas genéticas están disponibles para las mutaciones de STAT3.
• Si hay síntomas de neumonía, solicitar una tomografía computarizada (TC) o una radiografía de tórax para detectar infecciones pulmonares y el desarrollo de neumatoceles.

Tratamiento

No existe una cura definitiva. El tratamiento está orientado a tratar los LOS Neisseria síntomas, así como a prevenir y controlar las infecciones.

• Tratamiento antibiótico profiláctico antiestafilocócico a largo plazo
• Gammaglobulina intravenosa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum dosis altas y antagonistas de la histamina 1 para el eczema Eczema Atopic dermatitis, also known as eczema, is a chronic, relapsing, pruritic, inflammatory skin disease that occurs more frequently in children, although adults can also be affected. The condition is often associated with elevated serum levels of IgE and a personal or family history of atopy. Skin dryness, erythema, oozing, crusting, and lichenification are present. Atopic Dermatitis (Eczema)
• Antibióticos y antifúngicos, dependiendo de la naturaleza de las infecciones, junto con imagenología torácica periódica y alta sospecha clínica para la detección temprana de infecciones recurrentes
• Cirugía para drenar abscesos
• Optimización de la ingesta de calcio y vitamina D para mejorar la salud ósea
• Atención dental rutinaria
• Tamizaje de escoliosis

Diagnóstico Diferencial

Las siguientes afecciones son diagnósticos diferenciales del síndrome de hiperinmunoglobulina E autosómico dominante:

• Síndrome de hiper-IgE autosómico recesivo: un trastorno poco común de inmunodeficiencia primaria caracterizado por infecciones pulmonares y dermatológicas recurrentes causadas por bacterias y virus Virus Viruses are infectious, obligate intracellular parasites composed of a nucleic acid core surrounded by a protein capsid. Viruses can be either naked (non-enveloped) or enveloped. The classification of viruses is complex and based on many factors, including type and structure of the nucleoid and capsid, the presence of an envelope, the replication cycle, and the host range. Virology. Pueden presentar anomalías del sistema nervioso central o de los LOS Neisseria vasos, pero no carecen de los LOS Neisseria rasgos faciales característicos ni de las malformaciones esqueléticas. Puede deberse a mutaciones de los LOS Neisseria genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure ZNF341, DOCK8 o PGM3.
• Fibrosis Fibrosis Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. Bronchiolitis Obliterans quística: un trastorno autosómico recesivo causado por mutaciones en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el gen CFTR. Las mutaciones conducen a una disfunción de los LOS Neisseria canales de cloruro, lo que da lugar a una mucosidad hiperviscosa y a la acumulación de secreciones. Las presentaciones más frecuentes son infecciones respiratorias crónicas, retraso en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el desarrollo e insuficiencia pancreática.
• Enfermedad granulomatosa crónica: trastorno crónico que se caracteriza por la formación de granulomas Granulomas A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents. Sarcoidosis. Este trastorno es una consecuencia de la disfunción de las células fagocíticas que son incapaces de producir superóxido bactericida debido a un defecto en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la nicotinamida adenina dinucleótido fosfato de estas células. La presentación incluye infecciones cutáneas recurrentes, neumonía y gastroenteritis Gastroenteritis Gastroenteritis is inflammation of the stomach and intestines, commonly caused by infections from bacteria, viruses, or parasites. Transmission may be foodborne, fecal-oral, or through animal contact. Common clinical features include abdominal pain, diarrhea, vomiting, fever, and dehydration. Gastroenteritis.
• Dermatitis Dermatitis Any inflammation of the skin. Atopic Dermatitis (Eczema) atópica: también conocida como eczema Eczema Atopic dermatitis, also known as eczema, is a chronic, relapsing, pruritic, inflammatory skin disease that occurs more frequently in children, although adults can also be affected. The condition is often associated with elevated serum levels of IgE and a personal or family history of atopy. Skin dryness, erythema, oozing, crusting, and lichenification are present. Atopic Dermatitis (Eczema) alérgico, es una enfermedad inflamatoria crónica pruriginosa de la piel que se presenta con mayor frecuencia en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum niños, pero también en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum adultos. A menudo se asocia con IgE IgE An immunoglobulin associated with mast cells. Overexpression has been associated with allergic hypersensitivity. Immunoglobulins: Types and Functions elevada y con antecedentes personales o familiares de atopía. Se presenta con prurito intenso, lesiones papulovesiculares en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las superficies extensoras y liquenificación en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las zonas de flexión
• Infección por VIH y SIDA: causadas por un virus Virus Viruses are infectious, obligate intracellular parasites composed of a nucleic acid core surrounded by a protein capsid. Viruses can be either naked (non-enveloped) or enveloped. The classification of viruses is complex and based on many factors, including type and structure of the nucleoid and capsid, the presence of an envelope, the replication cycle, and the host range. Virology ARN monocatenario de la familia Retroviridae Retroviridae The human immunodeficiency virus (HIV) is a species of Lentivirus, a genus of the family Retroviridae, which causes HIV infections and acquired immunodeficiency syndrome (AIDS). The virus has high genetic variability and is divided into 2 major types, HIV type 1 (HIV-1) and HIV type 2 (HIV-2). The human immunodeficiency virus is a single-stranded, positive-sense, enveloped RNA virus, which targets and destroys WBCs, leading to frequent opportunistic infections and, eventually, death. Human Immunodeficiency Virus (HIV). Se transmite a través del intercambio de fluidos corporales como el semen y la sangre. La presentación está marcada por el deterioro del sistema inmunitario, que comienza con síntomas constitucionales como la linfadenopatía, y avanza hacia las enfermedades definitorias del SIDA, como las infecciones oportunistas.