الفهرس 
Title : Immune status in patients With inherited bone marrow failure syndromes
AbstractOnly 14 pages are availabe for public view
 |  | from | 229 |  |  |
| | | from | 229 | | |
Abstract
Background: Inherited bone marrow failure syndromes (IBMFS) comprise a heterogeneous group of rare cancer prone genetic disorders with hematologic and physical abnormalities. The major IBMFS are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond{u2013}Blackfan anemia (DBA), Shwachman{u2013}Diamond syndrome (SDS) and severe congenital neutropenia (SCN). The immune status of patients with an IBMFS is not entirely clear; however there are some suggestions that a few IBMFS patients exhibit various degrees of qualitative immune dysfunction. Recently, there are novel and rare PID syndromes have been associated with cytopenia secondary to bone marrow failure, but they are not always taken into consideration, some patients may be asymptomatic and may lack a history of severe infections. Phenotypic overlap may impair the correct diagnosis. Objective: This cross sectional analytical study aimed at evaluation of immune status of patients with inherited bone marrow failure syndromes. Methodology: The study was conducted on twenty one patients diagnosed with IBMFS, following up at hematology clinic at Cairo University Children{u2019}s hospital. The study included 17 patients diagnosed with Fanconi anemia and 4 patients diagnosed with Diamond-Blackfan anemia. Those patients were subjected to thorough history taking and clinical examination looking for special somatic features specific for IBMFS. Laboratory workup done in our study to evaluate immune status of IBMFS patients included; complete blood count (CBC) with differential leucocytic count, immunophenotyping of lymphocytes by Flow cytometry (CD3, CD4, CD8, CD19, CD56, B cell maturation, and naïve/memory T cells), as well as immunoglobulins assay (IgG, IgM, IgA levels). Results: Sino-pulmonary infections were the most frequently reported infections among our patients (52%), followed by recurrent oral moniliasis (19%) and gastrointestinal infections in (14%) of patients. Neutropenia was detected in 74% of (N= 15/21) with severity ranging from mild (24%) to severe neutropenia (36%), and all were FA patients. Lymphopenia could be detected in 57% of the patients (N=12/21). Low immunoglobulin levels for age were detected in 28.6% of the patients