Inmunodeficiencia Variable Común

Epidemiología

• Incidencia: 1:10 000 a 1:50 000
• El grupo más grande de inmunodeficiencias primarias sintomáticas 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
• Edad de aparición 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 mayoría de los LOS Neisseria pacientes entre 20 y 30 años
• Igual incidencia entre géneros
• La mediana de edad de muerte por inmunodeficiencia variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables común es 44 años (para mujeres) y 42 años (para hombres).

Etiología y Fisiopatología

Etiología

• Causa exacta desconocida
• La mayoría de los LOS Neisseria casos son esporádicos.
• Las mutaciones genéticas representan el 10% de los LOS Neisseria casos; sin embargo, no se puede establecer una causa monogénica 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 mayoría de los LOS Neisseria casos.
  • Vinculado a 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 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 que codifican proteínas de superficie celular, receptores de citocinas y complejo mayor de histocompatibilidad
  • La herencia familiar representa del 10%–25% .
  • Se han documentado patrones ligados al AL Amyloidosis cromosoma X, autosómico dominante y recesivo.

Fisiopatología

• Las células B son fenotípicamente normales, pero no pueden convertirse 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 células plasmáticas secretoras de inmunoglobulinas, lo que conduce a cantidades insuficientes de anticuerpos:
  • IgG IgG The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of igg, for example, igg1, igg2a, and igg2b. Hypersensitivity Pneumonitis: inmunidad a largo plazo
  • IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory iga is the main immunoglobulin in secretions. Immunoglobulins: Types and Functions: inmunidad secretora
  • IgM IgM A class of immunoglobulin bearing mu chains (immunoglobulin mu-chains). Igm can fix complement. The name comes from its high molecular weight and originally being called a macroglobulin. Immunoglobulins: Types and Functions: respuesta inmune aguda frente a infecciones ( 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 50% de los LOS Neisseria casos esta inmunoglobulina es deficiente)
• La falta de inmunoglobulinas aumenta el riesgo del paciente de sufrir infecciones recurrentes y de desarrollar respuestas inmunitarias deterioradas, como enfermedades autoinmunes, enfermedad granulomatosa y neoplasias malignas.
• Muy a menudo, los LOS Neisseria pacientes con inmunodeficiencia variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables común están infectados por 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, 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 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.

Presentación Clínica

• Infecciones recurrentes, principalmente bacterianas (infecciones piógenas 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 pulmones y senos paranasales y diarrea persistente)
• Trastornos autoinmunitarios (artritis reumatoide, psoriasis Psoriasis Psoriasis is a common T-cell-mediated inflammatory skin condition. The etiology is unknown, but is thought to be due to genetic inheritance and environmental triggers. There are 4 major subtypes, with the most common form being chronic plaque psoriasis. Psoriasis, anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica autoinmunitaria, diabetes Diabetes Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and dysfunction of the regulation of glucose metabolism by insulin. Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. Type 2 DM has a significant association with obesity and is characterized by insulin resistance. Diabetes Mellitus mellitus tipo 1, lupus, vitiligo Vitiligo Vitiligo is the most common depigmenting disorder and is caused by the destruction of melanocytes. Patients present with hypo- or depigmented macules or patches which often occur on the face, hands, knees, and/or genitalia. Vitiligo)
• Enfermedad granulomatosa ( granulomas Granulomas A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents. Sarcoidosis 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, los LOS Neisseria ganglios linfáticos, la piel y el tracto gastrointestinal que se asemejan a la sarcoidosis Sarcoidosis Sarcoidosis is a multisystem inflammatory disease that causes noncaseating granulomas. The exact etiology is unknown. Sarcoidosis usually affects the lungs and thoracic lymph nodes, but it can also affect almost every system in the body, including the skin, heart, and eyes, most commonly. Sarcoidosis a la evaluación histológica)
• Hiperplasia linfoide (linfadenopatía, esplenomegalia y hepatomegalia)
• Alto riesgo de malignidad (comúnmente asociado con linfoma, cáncer gástrico, de mama, de colon Colon The large intestines constitute the last portion of the digestive system. The large intestine consists of the cecum, appendix, colon (with ascending, transverse, descending, and sigmoid segments), rectum, and anal canal. The primary function of the colon is to remove water and compact the stool prior to expulsion from the body via the rectum and anal canal. Colon, Cecum, and Appendix: Anatomy, de próstata y de ovario)
• Síntomas varios (dolores abdominales, estreñimiento, malabsorción, pérdida de peso, ansiedad, depresión y letargo severo)

Diagnóstico

El diagnóstico es difícil debido a la diversidad de fenotipos.

• Antecedentes
  • Tenga 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 cuenta el tipo y frecuencia de infecciones y los LOS Neisseria antecedentes familiares (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 busca de antecedentes de deficiencia de anticuerpos)
  • Sospeche de una inmunodeficiencia variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables común si los LOS Neisseria pacientes presentan antecedentes de infecciones recurrentes, trastorno autoinmune, enfermedad granulomatosa o una neoplasia linfocítica y los LOS Neisseria siguientes signos físicos que sugieren una inmunodeficiencia variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables común:
    • Abdomen: dolor Dolor Inflammation abdominal, diarrea crónica/sanguinolenta, hepatoesplenomegalia
    • Cabeza y cuello: alopecia Alopecia Alopecia is the loss of hair in areas anywhere on the body where hair normally grows. Alopecia may be defined as scarring or non-scarring, localized or diffuse, congenital or acquired, reversible or permanent, or confined to the scalp or universal; however, alopecia is usually classified using the 1st 3 factors. Alopecia, linfadenopatía
    • Respiratorio: bronquiectasia, tos TOS Thoracic outlet syndrome (TOS) is a broad term used for a spectrum of syndromes related to the general region of the thoracic outlet, which involves the compression or irritation of elements of the brachial plexus, subclavian artery, or subclavian vein. Thoracic Outlet Syndrome, disnea, dolor Dolor Inflammation torácico pleurítico
    • Piel: queratosis actínica, dermatitis Dermatitis Any inflammation of the skin. Atopic Dermatitis (Eczema) atópica, eccema, molusco contagioso, hiperpigmentación, petequias, cánceres de piel, vitiligo Vitiligo Vitiligo is the most common depigmenting disorder and is caused by the destruction of melanocytes. Patients present with hypo- or depigmented macules or patches which often occur on the face, hands, knees, and/or genitalia. Vitiligo
    • Sistémico: signos de desnutrición, pérdida de peso.
  • Se necesita excluir las causas secundarias de deficiencia de anticuerpos, la hipogammaglobulinemia, las deficiencias de células T y otras inmunodeficiencias primarias (véase la tabla siguiente)
• Hallazgos de laboratorio
  • Disminución marcada de IgG IgG The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of igg, for example, igg1, igg2a, and igg2b. Hypersensitivity Pneumonitis (y sus subclases), IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory iga is the main immunoglobulin in secretions. Immunoglobulins: Types and Functions e IgM IgM A class of immunoglobulin bearing mu chains (immunoglobulin mu-chains). Igm can fix complement. The name comes from its high molecular weight and originally being called a macroglobulin. Immunoglobulins: Types and Functions (algunos casos de inmunodeficiencia variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables común no tendrán IgM IgM A class of immunoglobulin bearing mu chains (immunoglobulin mu-chains). Igm can fix complement. The name comes from its high molecular weight and originally being called a macroglobulin. Immunoglobulins: Types and Functions disminuida, pero todos tendrán IgG IgG The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of igg, for example, igg1, igg2a, and igg2b. Hypersensitivity Pneumonitis e IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory iga is the main immunoglobulin in secretions. Immunoglobulins: Types and Functions disminuidas)
  • Pobre respuesta de los LOS Neisseria anticuerpos a las vacunas (vacunas antitetánica y neumocócica)
  • Niveles bajos de células plasmáticas
• Se pueden realizar pruebas para mutaciones genéticas específicas (pero no es necesario para el diagnóstico)
• Además, evaluación de condiciones comórbidas:
  • Exploración por tomografía computarizada de alta resolución para detectar daño pulmonar
  • Pruebas de cultivo y sensibilidad para identificar los LOS Neisseria organismos causantes y guiar la terapia con antibióticos de infecciones recurrentes.
  • Biopsia y examen histológico de lesiones sospechosas para descartar linfomas

Resumen de los LOS Neisseria hallazgos necesarios para el diagnóstico

• Al AL Amyloidosis menos uno de los LOS Neisseria siguientes:
  • Mayor susceptibilidad a las infecciones
  • Manifestaciones de enfermedades autoinmunes
  • Enfermedad granulomatosa
  • Linfoproliferación policlonal inexplicable
  • Antecedentes familiares de deficiencia de anticuerpos.
• Y marcada disminución de IgG IgG The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of igg, for example, igg1, igg2a, and igg2b. Hypersensitivity Pneumonitis e IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory iga is the main immunoglobulin in secretions. Immunoglobulins: Types and Functions +/- disminución de la IgM IgM A class of immunoglobulin bearing mu chains (immunoglobulin mu-chains). Igm can fix complement. The name comes from its high molecular weight and originally being called a macroglobulin. Immunoglobulins: Types and Functions
• Y al AL Amyloidosis menos uno de los LOS Neisseria siguientes:
  • Pobre respuesta inmunológica a las vacunas.
  • Niveles bajos de células plasmáticas
• Y se excluyen las causas secundarias de hipogammaglobulinemia
• Y diagnóstico establecido después de los LOS Neisseria cuatro años
• Y no hay evidencia de deficiencia de células T

Tratamiento

• La terapia de reemplazo de inmunoglobulinas repone los LOS Neisseria isotipos de inmunoglobulinas:
  • Puede administrarse por vía intravenosa, subcutánea o, raras veces, por vía intramuscular.
  • Efectos secundarios:
    • Edema Edema Edema is a condition in which excess serous fluid accumulates in the body cavity or interstitial space of connective tissues. Edema is a symptom observed in several medical conditions. It can be categorized into 2 types, namely, peripheral (in the extremities) and internal (in an organ or body cavity). Edema 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 lugar de la inserción
    • Escalofríos
    • Cefalea
    • Náuseas
    • Fatiga
    • Fiebre
    • Urticaria Urticaria Urticaria is raised, well-circumscribed areas (wheals) of edema (swelling) and erythema (redness) involving the dermis and epidermis with associated pruritus (itch). Urticaria is not a single disease but rather is a reaction pattern representing cutaneous mast cell degranulation. Urticaria (Hives)
• Los LOS Neisseria inmunosupresores también se pueden usar para controlar los LOS Neisseria síntomas autoinmunes.
• Terapia antibiótica y/o antifúngica para infecciones
• La terapia con corticosteroides a corto plazo puede prevenir reacciones no anafilácticas (comunes 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 esta afección).

Diagnóstico Diferencial

Inmunodeficiencias congénitas de células B:

• Agammaglobulinemia ligada al AL Amyloidosis cromosoma X: también conocida como agammaglobulinemia de Bruton, es un trastorno genético recesivo caracterizado por el desarrollo inadecuado de las células B de células inmaduras a maduras
• Deficiencia selectiva de IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory iga is the main immunoglobulin in secretions. Immunoglobulins: Types and Functions: la inmunodeficiencia primaria más común, caracterizada por un nivel de IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory iga is the main immunoglobulin in secretions. Immunoglobulins: Types and Functions sérico indetectable 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 presencia de niveles séricos normales de IgG IgG The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of igg, for example, igg1, igg2a, and igg2b. Hypersensitivity Pneumonitis e IgM IgM A class of immunoglobulin bearing mu chains (immunoglobulin mu-chains). Igm can fix complement. The name comes from its high molecular weight and originally being called a macroglobulin. Immunoglobulins: Types and Functions 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 pacientes mayores de 4 años