In some cases, significant impairment of T-cell immunity is associated with residual development and function of T lymphocytes. These conditions are also known as CID to distinguish them from SCID, in which T-cell development and function are abrogated. The clinical features of CID overlap with SCID, but also include autoimmunity […]
Therapy, Course, and Prognosis of Severe Combined Immunodeficiency Syndromes SCID is a medical emergency and is inevitably fatal if untreated. Confirmation of diagnosis by appropriate laboratory assays, referral to a tertiary care center, and aggressive treatment of infections should be immediately initiated in infants with possible SCID. High-dose intravenous sulfamethoxazole/trimethoprim […]
Severe Combined Immunodeficiencies Other Combined Immunodeficiencies- Omenn Syndrome ZAP-70 Deficiency MHC Class II Deficiency Coronin-1A Deficiency Defective Thymic Development Ipex Syndrome – hematopoietic stem cells transplant Wiskott-Aldrich Syndrome The Hyperimmunoglobulin E Syndromes Cartilage Hair Hypoplasia Schimke Syndrome Chromosomal Instability Syndromes Associated with Immunodeficiency Chédiak-Higashi Syndrome – Allogeneic hematopoietic stem cell […]
What is Primary immune deficiency diseases (PIDDs)? Symptoms of Primary immune deficiency diseases (PIDDs) Treatment of Primary immune deficiency diseases (PIDDs) Severe Combined Immunodeficiencies Other Combined Immunodeficiencies- Omenn Syndrome ZAP-70 Deficiency MHC Class II Deficiency Coronin-1A Deficiency Defective Thymic Development Ipex Syndrome – hematopoietic stem cells transplant Wiskott-Aldrich Syndrome The Hyperimmunoglobulin […]
What is Primary immune deficiency diseases (PIDDs)? Symptoms of Primary immune deficiency diseases (PIDDs) Treatment of Primary immune deficiency diseases (PIDDs) Clinical Features of Primary immune deficiency diseases (PIDDs) Because IgG is actively transported across the placenta, infants born with XLA have normal levels of IgG at birth and are frequently asymptomatic […]
What is Primary immune deficiency diseases (PIDDs)? What is Primary immune deficiency diseases (PIDDs)? Primary immune deficiency diseases (PIDDs) are characterized by increased susceptibility to infections, often associated with autoimmunity and inflammation and an increased risk of malignancies because of impaired immune homeostasis and surveillance. Depending on the nature of the immune […]
Summary Primary myelofibrosis . Presenting Symptoms of Primary myelofibrosis Laboratory Features of Primary myelofibrosis Treatment of Primary myelofibrosis Clinical Features Presenting Symptoms of Primary myelofibrosis About one-fourth of patients are asymptomatic at the time of diagnosis; the disease is detected by medical examination for an unrelated reason. In symptomatic patients, fatigue, weakness, […]
Summary Primary myelofibrosis . Presenting Symptoms of Primary myelofibrosis Laboratory Features of Primary myelofibrosis Treatment of Primary myelofibrosis Laboratory Features Blood Cell Counts and Morphology of Primary myelofibrosis The range of values for blood cell counts at the time of diagnosis is very broad. Normocytic–normochromic anemia is present in most, but not […]
Summary Primary myelofibrosis . Presenting Symptoms of Primary myelofibrosis Laboratory Features of Primary myelofibrosis Treatment of Primary myelofibrosis Summary Primary myelofibrosis is one of several disorders in the spectrum of clonal myeloid diseases, malignant diseases that originate in the clonal expansion of a single neoplastic hematopoietic multipotential cell. Approximately 50 percent […]
Summary The chronic myelogenous leukemias (CMLs) include BCR rearrangement-positive CML, chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, chronic neutrophilic leukemia, chronic eosinophilic leukemia, chronic basophilic leukemia, and possibly chronic monocytic leukemia. The term chronic, in contrast to acute, once had prognostic implications. However, although the terms remain useful for nosology, they […]
Summary Acute myelogenous leukemia (AML) is the result of a sequence of somatic mutations in a multipotential primitive hematopoietic cell or, in some cases, a more differentiated progenitor cell. Exposure to radiation, chronic exposure to high doses of benzene, and chronic, heavy inhalation of tobacco smoke increase the incidence of […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Therapy-Related Myelodysplastic Syndromes Therapy-related myelodysplastic syndromes are increasing in frequency as the utilization of intensive chemotherapy and radiation increases in other solid […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Laboratory Features Blood Red Cells Anemia is present in greater than 85 percent of patients.14,93,94 In approximately 4 percent of patients, the anemia […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Oligoblastic Myelogenous Leukemia (Refractory Anemia with Excess Blasts) Definition and History In 1963, the term smoldering acute leukemia was introduced to highlight […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia History The term refractory anemia has been used for nearly a century to define erythropoietic insufficiencies that cannot be assigned […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Monosomy 7–Associated Syndromes Monosomy 7 is the second most frequent cytogenetic abnormality in the marrow cells of patients with myelodysplasia. It often occurs […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes 5Q– Syndrome Van Den Berge and colleagues are credited with the description of this syndrome in 1974.197 Patients with the 5q– syndrome have […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Patients can be asymptomatic or, if anemia is more severe, can have pallor, weakness, loss of a sense of well […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Summary of Myelodysplastic Syndromes In contrast to florid (polyblastic) acute myelogenous leukemia (AML), the myelodysplastic syndrome (MDS) encompasses a group of neoplastic (clonal) myeloid disorders […]
Summary of Myelodysplastic Syndromes Symptoms and Signs of Myelodysplastic Syndromes Laboratory Features of Myelodysplastic Syndromes Specific Myelodysplastic Syndromes Clonal (Refractory) Sideroblastic Anemia Therapy-Related Myelodysplastic Syndromes Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes Allogeneic Stem Cell Transplantation for Myelodysplastic Syndromes . This approach has been used to treat various Myelodysplastic Syndromes in patients ranging in age from 1 […]
What is polycythemia vera ? Clinical Features & Signs and Symptoms of Polycythemia vera. Laboratory tests for Polycythemia vera Treatment of polycythemia vera. What is polycythemia vera ? Polycythemia vera is a disorder in the group of chronic myeloproliferative disorders (MPDs), also refered to as myeloproliferative neoplasms, that includes essential […]
Summary The clonal myeloid disorders result from acquired mutations within a multipotential marrow cell or very early progenitor cell. The chromosomal alteration resulting in the primary mutation sometimes is evident when cytogenetic analysis is performed. Translocations, inversions, and deletions of chromosomes can result in (1) the expression of fusion genes […]
Definition This inherited disorder is characterized by cutaneous and mucous membrane abnormalities, progressive marrow insufficiency, and a predisposition to malignant transformation. It is much more common in males than in females, and occurs in about 1 per 1 million population.221,238 Pathogenesis & cause Dyskeratosis usually is inherited as a recessive […]
Definition and History Fanconi anemia is the most common form of constitutional aplastic anemia and was initially described in three brothers by Fanconi in 1927.219 It is inherited as an autosomal recessive condition that results from defects in genes that modulate the stability of DNA. Epidemiology or cause Fanconi Anemia […]