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Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF. 2019

Deniz Yilmaz Karapinar, and Burcu Akinci, and Akkiz Şahin Yaşar, and Hamiyet Hekimci Özdemir, and Zuhal Önder Siviş, and Hüseyin Onay, and Ferda Özkinay
Departments of Pediatric Hematology.

Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutation responding to GCSF.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009503 Neutropenia A decrease in the number of NEUTROPHILS found in the blood. Neutropenias
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000080984 Congenital Bone Marrow Failure Syndromes Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation. Bone Marrow Failure Syndromes, Congenital,Bone Marrow Failure Syndromes, Inherited,CBMFS,Congenital Bone Marrow Failure Syndrome,IBMFS,Inherited BMF Syndrome,Inherited BMF Syndromes,Inherited Bone Marrow Failure Syndrome,Inherited Bone Marrow Failure Syndromes,BMF Syndrome, Inherited
D016179 Granulocyte Colony-Stimulating Factor A glycoprotein of MW 25 kDa containing internal disulfide bonds. It induces the survival, proliferation, and differentiation of neutrophilic granulocyte precursor cells and functionally activates mature blood neutrophils. Among the family of colony-stimulating factors, G-CSF is the most potent inducer of terminal differentiation to granulocytes and macrophages of leukemic myeloid cell lines. Colony-Stimulating Factor, Granulocyte,G-CSF,Myeloid Growth Factor,Colony Stimulating Factor, Granulocyte,Factor, Granulocyte Colony-Stimulating,Factor, Myeloid Growth,Granulocyte Colony Stimulating Factor,Growth Factor, Myeloid
D016184 Receptors, Colony-Stimulating Factor Cell surface receptors for colony stimulating factors, local mediators, and hormones that regulate the survival, proliferation, and differentiation of hemopoietic cells. Colony-Stimulating Factor Receptors,Hematopoietic Growth Factors Receptors,Receptors, Hematopoietic Growth Factors,CSF Receptors,Colony-Stimulating Factor Receptor,Hematopoietic Growth Factor Receptor,Colony Stimulating Factor Receptor,Colony Stimulating Factor Receptors,Receptor, Colony-Stimulating Factor,Receptors, CSF,Receptors, Colony Stimulating Factor
D016896 Treatment Outcome Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series. Rehabilitation Outcome,Treatment Effectiveness,Clinical Effectiveness,Clinical Efficacy,Patient-Relevant Outcome,Treatment Efficacy,Effectiveness, Clinical,Effectiveness, Treatment,Efficacy, Clinical,Efficacy, Treatment,Outcome, Patient-Relevant,Outcome, Rehabilitation,Outcome, Treatment,Outcomes, Patient-Relevant,Patient Relevant Outcome,Patient-Relevant Outcomes
D048868 Adaptor Proteins, Signal Transducing A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes Signal Transducing Adaptor Proteins

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