The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).

Background: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently defined combined primary immunodeficiency disease (PID) characterized by recurrent respiratory tract infections, lymphoproliferation, autoimmunity and lymphoma. Gain-of-function mutations in and loss-of-function of genes lead to APDS1 and APDS2, respectively.

Methods: Demographic, clinical, immunological and genetic data were collected from medical records of 15 pediatric patients, who were genetically identified using the whole-exome sequencing method.

Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency.

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed.

Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies.

Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out.

Secondary ALL after Successful Treatment of Ewing's Sarcoma: A Case Report.

Treatment with intensification of chemotherapy using alkylating agents and Topoisomerase II inhibitors and radiotherapy has improved the outcome of patients with solid tumors such as Ewing's sarcoma. However, there are several reports of secondary malignancy following treatment of these tumors. In this article, we describe a 12 years old girl with ALL who had Ewing's sarcoma when she was 8 years old and underwent successful treatment but after two and half years at 12 years old, she came back with pallor and muscular pain.

Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family.

Human parvovirus (HPV) B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS) is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR) and positive serology for specific anti-HPV B19 IgM.

Primary Ewing's Sarcoma of the temporal bone in an infant.

Introduction : Ewing's sarcoma is the second most common primary malignant tumor of bone found in children after Osteosarcoma. It accounts for 4-9% of primary malignant bone tumors and it affects bones of the skull or face in only 1-4% of cases. Hence it rarely affects the head and neck.

Multifocal kaposiform hemangioendothelioma of soft tissue with bilateral pulmonary involvement in an adolescent.

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of intermediate malignancy with resemblance to Kaposi sarcoma. It occurs predominantly in pediatric age groups as a cutaneous lesion with focal infiltration into the adjacent soft tissue and bone. Although visceral involvement is very uncommon, several cases with bone, retroperitoneal, or mediastinal involvement have been described.

Posterior reversible encephalopathy syndrome in pediatric hematologic-oncologic disease: literature review and case presentation.

Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological disease entity, which is represented by characteristic magnetic resonance imaging (MRI) findings of subcortical/cortical hyperintensity in T2-weighted sequences. It is more often seen in parietaloccipital lobes, and is accompanied by clinical neurological changes. PRES is a rare central nervous system (CNS) complication in patients with childhood hematologic-oncologic disese and shows very different neurological symptoms between patients, ranging from numbness of extremities to generalized seizure.

Pattern of immunoglobulin and T-cell receptor-δ/γ gene rearrangements in Iranian children with B-precursor acute lymphoblastic leukemia.

Introduction: Acute lymphoblastic leukemia (ALL) cells have unique rearranged immunoglobulin heavy chain (IgH), immunoglobulin light chain (IgK), and T-cell receptor (TCR) genes, which can be used as markers for clonality assay and evaluation of minimal residual disease. In this study, we have evaluated the pattern of IgH, IgK chains, and TCRG/D gene rearrangements in precursor-B ALL.

Materials And Methods: In our prospective study, hyper-variable regions (CDRI and III) of IgH, TCRD (Vδ2-Dδ3 and Dδ2-Dδ3), TCRG (Vγ, VγI, and VγII), and IgK (Vκ-Kde) were studied in 126 cases with diagnosis of B-precursor ALL.

Primary intrarenal neuroblastoma with hypertension and disseminated intravascular coagulation.

The primary intrarenal neuroblastoma (IRNB) is a rare condition. Intrarenal neuroblastoma typically results from direct renal invasion from an adrenal neuroblastoma, but true intrarenal neuroblastoma originates either sequestered adrenal rests during the fetal life or intrarenal sympathetic ganglia. Clinical, radiological, and pathological correlation is very essential for diagnosis and appropriate management of this type of unusual cases.

Hemophagocytic lymphohistiocytosis complicating erythroleukemia in a child with monosomy 7: a case report and review of the literature.

Herein, the first case of childhood erythrophagocytosis following chemotherapy for erythroleukemia in a child with monosomy 7 is reported. A 5-year-old boy presented with anemia, thrombocytopenia, and hepatosplenomegaly in whom erythroleukemia was diagnosed. Prolonged pancytopenia accompanied by persistent fever and huge splenomegaly and hepatomegaly became evident after 2 courses of chemotherapy.

Retroperitoneal malignant peripheral nerve sheath tumor replacing an absent kidney in a child.

Malignant peripheral nerve sheath tumors (MPNSTs) are nonrhabdomyosarcoma soft tissue sarcomas with rare occurrence in children specially in the retroperitoneum. We describe a young child who presented with an abdominal mass. Both ultrasound and computed tomography revealed a large right-sided abdominal mass in the anatomic place of right kidney, while no kidney or ureter was observed at that side.

Efficacy and safety of deferasirox in β-thalassemia major patients in Iran: a prospective study from a single referral center in Iran.

Introduction: Herein, the results of a prospective study evaluating the efficacy and safety of treatment with deferasirox are studied in iron-overloaded patients with β-thalassemia major during an 18-month trial.

Methods: Thirty patients who were previously chelated with deferoxamine with/without deferiprone, and fulfilled the inclusion criteria were recruited. Patients received an initial dose of 10-30 mg/kg/day.

Adrenocortical carcinoma presenting with heterosexual pseudoprecocious puberty shortly after birth: case report and review.

Adrenocortical tumour is rare in children. We report on a female infant with adrenocortical carcinoma presenting with pseudoprecocious puberty at the age of two. She had a history of gradually increasing public hair growth after birth.

Clinical responses to rituximab in a case of neuroblastoma with refractory opsoclonus myoclonus ataxia syndrome.

Opsoclonus myoclonus ataxia syndrome (OMS) is a rare neurologic syndrome. In a high proportion of children, it is associated with neuroblastoma. The etiology of this condition is thought to be immune mediated.

Association of serum soluble triggering receptor expressed on myeloid cells levels in malignant febrile neutropenic patients with bacteremia and fungemia.

Objective: Infections are the major cause of morbidity and mortality in febrile neutropenic patients with malignancy. Rapid diagnostic tests are needed for prompt diagnosis and early treatment which is crucial for optimal management. We assessed the utility of soluble triggering receptor expressed on myeloid cells (sTREM-1) in the diagnosis of bacteremia and fungemia in febrile neutropenic patients.

Magnetic resonance imaging in the evaluation of iron overload: a comparison of MRI, echocardiography and serum ferritin level in patients with β-thalassemia major.

Purpose: This study aimed to evaluate iron levels in cardiac and hepatic tissues using magnetic resonance imaging (MRI) T2*.

Methods: Cardiac and hepatic MRI was performed for 93 patients with β-thalassemia major.

Results: Cardiac T2* was in the range of 2.

Torque teno virus and hepatitis C virus co-infection in Iranian pediatric thalassemia patients.

Objective: Torque teno virus (TTV) infects patients at risk for parenteral exposure and chronic blood transfusion, such as those with β-thalassemic. This study aimed to assess the prevalence of TTV infection and co-infection of TTV and hepatitis C virus (HCV) in pediatric thalassemia patients receiving chronic blood transfusion.

Material And Methods: The study included 90 pediatric thalassemia patients receiving chronic blood transfusion that presented to the Mofid Children's Hospital, Tehran, Iran.

Primary hemophagocytic lymphohistiocytosis in Iran: report from a single referral center.

Hemophagocytic lymphohistiocytosis (HLH) is a rare condition characterized by fever, hepatosplenomegaly, and cytopenia, and widespread accumulation of lymphocytes and histiocytes, sometimes with hemophagocytosis, primarily involving the spleen, lymph nodes, bone marrow, and liver. HLH can either occur sporadically (secondary HLH) or as part of a familial syndrome (primary HLH), including familial HLH and the distinct immunodeficiency syndromes. Herein the authors report 6 Iranian patients with primary HLH and their outcome from a single tertiary-care center.

Clinical outcomes of Torque teno virus-infected thalassemic patients with and without hepatitis C virus infection.

Background: Although a marked proportion of thalassemic patients acquire Torque teno virus (TTV) through blood transfusion, its clinical importance is unclear. This study was designed to investigate the clinical importance of TTV infection in thalassemic patients with and without hepatitis C virus (HCV) co-infection in Iran.

Methods: In this case-control study, 107 thalassemic patients on chronic transfusion and 107 healthy individuals were selected.

A 10-year single center survey of pediatric patients with histiocytic disorders in Iran.

Childhood histiocytosis is a rare and diverse group of proliferative disorders, characterized by accumulation and infiltration of antigen-presenting cells or antigen-processing cells, which can affect any tissue or organ. This study was performed in order to investigate the clinical characteristics of Iranian children with different types of histiocytic disorders. Thirty-five patients, with a median age of 3.

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.

Griscelli syndrome type 2 is a rare autosomal recessive primary immunodeficiency disease caused by a mutation in the RAB27A gene and characterized by oculocutaneous hypopigmentation and variable cellular immunodeficiency. We report the case of a 6-month-old infant with silvery hair, eyelashes, and eyebrows who was referred to our center because of fever and hepatosplenomegaly. Bone marrow studies indicated hemophagocytosis, whilst microscopic examination of the hair showed irregular agglomerations of pigment in hair shafts.

Development of secondary T-cell acute lymphoblastic leukemia in a child with hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) is a severe life-threatening disorder, characterized by hyperactivation of macrophages. A 12-year-old female was referred to our center; the diagnosis of HLH was made for the patient and immunosuppressive regimen was started. After a 2-year follow-up, the patient developed secondary T-cell acute lymphoblastic leukemia (T-ALL), confirmed by flow cytometric studies.