Blood Diseases


Acquired Aplastic Anemia

Definition of Acquired Aplastic Anemia Causes of Acquired aplastic anemia Symptoms of Acquired aplastic anemia Acquired aplastic anaemia treatment   Definition of Acquired Aplastic Anemia   Aplastic anemia is a clinical syndrome that results from a marked diminution of marrow blood cell production. The latter results in reticulocytopenia, anemia, granulocytopenia, monocytopenia, and thrombocytopenia. The diagnosis […]


Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy Syndrome

Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy Syndrome APECED is a rare autosomal recessive disorder, also known as autoimmune polyglandular syndrome (APS) type I. The incidence is high in certain isolated populations, for example, Finns, Iranian Jews, and Sardinians. Most patients with APECED present with chronic mucocutaneous candidiasis and endocrinopathies predominantly […]


Autosomal Recessive Hyper-IgM with CD40 Mutations

Autosomal Recessive Hyper-IgM with CD40 Mutations A few unrelated families with autosomal recessive hyperimmunoglobulin M caused by mutations of CD40 have been reported. Affected members have similar clinical and laboratory findings as those with CD40L mutations. Treatment and prognosis of CD40 deficiency is similar to XHIGM. Autosomal Recessive Hyper-IgM Syndrome […]


Wiskott-Aldrich Syndrome Protein

Abnormalities of Cytoskeletal Linking Proteins – Wiskott-Aldrich Syndrome Protein Definition and History The Wiskott-Aldrich syndrome, which affects 4 of every 1 million males worldwide, is an X chromosome-linked inherited disorder characterized by small platelets, thrombocytopenia, recurrent infections, and eczema, although only a minority of patients have all of the classic manifestations.722–724 […]


Hematopoietic Stem-Cell Transplantation (HSCT) in Wilms Tumor.

What is Wilms Tumor ? Wilms tumor, the most common primary malignant renal tumor of childhood, is highly sensitive to chemotherapy and radiation, and current cure rates exceed 85%.[11] Ten to 15% of patients with favorable histology and 50% of patients with anaplastic tumors experience tumor progression or relapse.[11] Similar […]


Hematopoietic Stem-Cell Transplantation HSCT in Rhabdomyosarcoma (RMS)

What is Rhabdomyosarcoma ? Rhabdomyosarcoma (RMS), the most common soft tissue sarcoma of childhood, shows skeletal muscle differentiation. The most common primary sites are the head and neck (e.g., parameningeal, orbital, pharyngeal), genitourinary tract, and extremities.[8] Most children with RMS present with localized disease, and with conventional multimodal therapy, the […]


Blood Diseases

Hematopoietic Stem Cell Transplantation treatment for solid tumors in children.


Hematopoietic Stem Cell Transplantation for Treatment of paroxysmal nocturnal hemoglobinuria (PNH)

Summary of paroxysmal nocturnal hemoglobinuria (PNH) Symptoms of paroxysmal nocturnal hemoglobinuria (PNH) Treatment of paroxysmal nocturnal hemoglobinuria (PNH) Hematopoietic Stem Cell Transplantation for Treatment of paroxysmal nocturnal hemoglobinuria (PNH)   Hematopoietic Stem Cell Transplantation Prior to the availability of eculizumab, the primary indications for transplantation were marrow failure, recurrent, life-threatening thrombosis, […]


Symptoms of paroxysmal nocturnal hemoglobinuria (PNH)

Summary of paroxysmal nocturnal hemoglobinuria (PNH) Symptoms of paroxysmal nocturnal hemoglobinuria (PNH) Treatment of paroxysmal nocturnal hemoglobinuria (PNH) Hematopoietic Stem Cell Transplantation for Treatment of paroxysmal nocturnal hemoglobinuria (PNH)       Clinical Features paroxysmal nocturnal hemoglobinuria (PNH) The primary clinical manifestations of PNH are hemolysis, thrombosis, and marrow failure.27 Constitutional symptoms […]


paroxysmal nocturnal hemoglobinuria (PNH)

Summary of paroxysmal nocturnal hemoglobinuria (PNH) Symptoms of paroxysmal nocturnal hemoglobinuria (PNH) Treatment of paroxysmal nocturnal hemoglobinuria (PNH) Hematopoietic Stem Cell Transplantation for Treatment of paroxysmal nocturnal hemoglobinuria (PNH)   Summary of paroxysmal nocturnal hemoglobinuria (PNH) In contrast to all other intrinsic abnormalities of the erythrocyte, paroxysmal nocturnal hemoglobinuria (PNH) is an […]


Clinical Disorders of Neutrophil Function

Classification Neutrophil dysfunction may arise from ( 1) the absence of antibodies or complement components required to opsonize microorganisms, an interaction that provides a chemotactic signal; (2) the abnormalities of cytoplasmic and granule movement that alter the chemotactic response or that result in abnormalities of the plasma membrane affecting the […]


Hemophagocytic Lymphohistocytosis

Definition and History Farquhar and Claireux first described this disease in siblings in 1952.143 Although many case reports using several eponyms ensued, Henter and Elinder provided a logical organization of the diverse clinical presentations.144 HLH is an aggressive and potentially fatal syndrome that results from inappropriate prolonged activation of lymphocytes […]


Glanzmann thrombasthenia- Allogeneic hematopoietic stem cell transplantation

Definition and History Symptoms of Glanzmann thrombasthenia Tests for Glanzmann Thrombasthenia Treatment of Glanzmann thrombasthenia Allogeneic hematopoietic stem cell transplantation has been reported in several patients with Glanzmann thrombasthenia. The first was a 5-year-old male who had several severe gastrointestinal hemorrhages.195 His bleeding diathesis was cured and he was alive […]


Glanzmann Thrombasthenia – IIb3 (Glycoprotein IIb/IIIa; CD41/CD61)

Definition and History Symptoms of Glanzmann thrombasthenia Tests for Glanzmann Thrombasthenia Treatment of Glanzmann thrombasthenia Definition and History Glanzmann thrombasthenia is an inherited hemorrhagic disorder characterized by a severe reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists because of qualitative or quantitative abnormalities of platelet […]


Symptoms of Glanzmann thrombasthenia

Definition and History Symptoms of Glanzmann thrombasthenia Tests for Glanzmann Thrombasthenia Treatment of Glanzmann thrombasthenia Clinical Features The clinical manifestations of a total of 232 patients with Glanzmann thrombasthenia have been the subject of two reviews, and Table 121–2 summarizes data from 177 of these patients.10,21 Menorrhagia occurs in nearly […]


Tests for Glanzmann Thrombasthenia

Laboratory Features Table 121–3 provides characteristic laboratory data in patients with Glanzmann thrombasthenia. Patients have normal platelet counts and morphology, prolonged bleeding times, decreased or absent clot retraction, and abnormal platelet aggregation responses to physiologic stimuli. Platelets of patients with Glanzmann thrombasthenia have a normal (or near-normal) initial slope of […]


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+ […]