Yearly Archives: 2013


Defects Involving Other Pattern-Recognition Signaling Pathways with Increased Susceptibility to Fungal Infections

Defects Involving Other Pattern-Recognition Signaling Pathways with Increased Susceptibility to Fungal Infections Chronic mucocutaneous candidiasis is a common complication affecting patients with APECED due to mutation in the transcription factor AIRE138 and those with autosomal dominant HIES due to mutations in the transcription factor STAT3.146 Genetic evaluation of a large […]


Immunodeficiencies with Selective Susceptibility to Pathogens

Immunodeficiencies with Selective Susceptibility to Pathogens Although classical forms of primary immune deficiency disease are characterized by susceptibility to a broad range of pathogens, several disorders have been identified with selective susceptibility to certain microorganisms. Some of these diseases (e.g., mendelian susceptibility to herpes simplex encephalitis or to pyogenic infections, […]


Chromosomal Instability Syndromes Associated with Immunodeficiency

Chromosomal Instability Syndromes Associated with Immunodeficiency Chromosomal instability syndromes have in common increased spontaneous or induced DNA breaks, susceptibility to infections secondary to immune deficiency, and an increased risk of malignancies. Disease-specific abnormalities involving growth and development, the central nervous system, and the skin provide useful diagnostic clues. The classic […]


Ipex Syndrome – hematopoietic stem cells transplant

Ipex Syndrome -Clinical Findings   The most prominent IPEX symptoms include early onset diarrhea secondary to autoimmune enteropathy, multiple endocrinopathies including insulin-dependent type 1 diabetes mellitus, thyroiditis, and, rarely, adrenal insufficiency. Autoimmune hemolytic anemia, thrombocytopenia, and neutropenia are common complications. Eczema is the most frequent pathology of the skin, but […]


MHC Class II Deficiency

MHC Class I Deficiency   Definition   MHC class I deficiency is characterized by reduced expression of MHC class I molecules at the cell surface. The disease is inherited as an autosomal recessive trait, and may be caused by defects in the TAP1,112 TAP2,113 or Tapasin114 genes. These defects interfere […]


Ca2+ Entry Channel Deficiency – Allogeneic hematopoietic stem cell transplantation

Ca2+ Entry Channel Deficiency Calcium mobilization is a key event in the activation process of lymphocytes and nonimmune cells. Two molecules, ORAI1 and STIM1, mediate the function of Ca2+ entry channels. ORAI1 is a ubiquitously expressed protein that constitutes the pore-forming subunits of the Ca2+ release-activated channels located in the […]


Coronin-1A Deficiency – allogeneic hematopoietic stem cell transplantation 1

Coronin-1A Deficiency Coronin 1A, an actin regulator that is predominantly expressed in hematopoietic cells, plays a key role in regulating egress of thymocytes and trafficking of naïve T lymphocytes to secondary lymphoid organs. Mutations affecting both alleles of the CORO1A gene have been reported in a patient with CID who […]


ZAP-70 Deficiency- allogeneic hematopoietic stem cell transplantation.

Definition of ZAP-70 Deficiency The zeta-associated protein of 70 kDa (ZAP-70) is recruited to phosphorylated CD3 chains following TCR ligation, and participates in intracellular signaling. Mutations of ZAP-70 result in a rare form of SCID, with inability to support positive selection of CD8+ lymphocytes in the thymus, whereas development of CD4+ […]


Other Combined Immunodeficiencies- Omenn Syndrome 1

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 […]


Allogeneic stem cell transplantation for Severe Combined Immunodeficiency Syndromes

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 1

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 […]


Treatment of Primary immune deficiency diseases (PIDDs)

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 […]


Symptoms of Primary immune deficiency diseases (PIDDs)

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 […]


Primary immune deficiency diseases (PIDDs)

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 […]


Laboratory Features of Primary myelofibrosis

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, […]


Presenting Symptoms of Primary myelofibrosis 2

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, […]


Primary myelofibrosis

  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 […]


Chronic myelogenous leukemias (CMLs)

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 […]


Acute myelogenous leukemia (AML)

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 […]


Therapy-Related Myelodysplastic Syndromes

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 […]


Laboratory tests of Myelodysplastic Syndromes

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 […]


Oligoblastic Myelogenous Leukemia (Refractory Anemia with Excess Blasts)

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 […]


Clonal (Refractory) Sideroblastic 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  Clonal (Refractory) Sideroblastic Anemia History The term refractory anemia has been used for nearly a century to define erythropoietic insufficiencies that cannot be assigned […]


Monosomy 7–Associated Syndromes

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 […]