# Blood disorders and treatments
**Type:** Topics
**Canonical URL:** https://scholariq.org/topics/blood-disorders-and-treatments/
## Facts
| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on the genetic basis and clinical manifestations of various neutropenia disorders, including Shwachman-Diamond syndrome, Kostmann disease, and Cohen syndrome. It explores the impact of mutations in genes such as ELANE, HAX1, GFI1, and SBDS on neutrophil development and function, as well as the implications for hematopoietic stem cell transplantation and G-CSF therapy. The research also delves into the molecular mechanisms underlying neutropenia and potential therapeutic targets. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t12919 |
| Works | 127 |
## Topic papers all
Showing 15 of 127.
- [Inborn errors of type I IFN immunity in patients with life-threatening COVID-19](https://scholariq.org/papers/inborn-errors-of-type-i-ifn-immunity-in-patients-with-life-threatening-covid-19/)
- [SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts](https://scholariq.org/papers/somatic-i-sf3b1-i-mutation-in-myelodysplasia-with-ring-sideroblasts/)
- [LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia](https://scholariq.org/papers/lef-1-is-crucial-for-neutrophil-granulocytopoiesis-and-its-expression-is/)
- [Drug reaction with eosinophilia and systemic symptoms (DRESS): an original multisystem adverse drug reaction. Results from the prospective RegiSCAR study](https://scholariq.org/papers/drug-reaction-with-eosinophilia-and-systemic-symptoms-dress-an-original/)
- [International Consensus Document (ICON): Common Variable Immunodeficiency Disorders](https://scholariq.org/papers/international-consensus-document-icon-common-variable-immunodeficiency-disorders/)
- [Morbidity and mortality in common variable immune deficiency over 4 decades](https://scholariq.org/papers/morbidity-and-mortality-in-common-variable-immune-deficiency-over-4-decades/)
- [Establishment and characterization of a unique human cell line that proliferates dependently on GM‐CSF, IL‐3, or erythropoietin](https://scholariq.org/papers/establishment-and-characterization-of-a-unique-human-cell-line-that-proliferates/)
- [International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity](https://scholariq.org/papers/international-union-of-immunological-societies-2017-primary-immunodeficiency/)
- [TACI is mutant in common variable immunodeficiency and IgA deficiency](https://scholariq.org/papers/taci-is-mutant-in-common-variable-immunodeficiency-and-iga-deficiency/)
- [Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans](https://scholariq.org/papers/mutations-in-tnfrsf13b-encoding-taci-are-associated-with-common-variable/)
- [Clinical spectrum of X-linked hyper-IgM syndrome](https://scholariq.org/papers/clinical-spectrum-of-x-linked-hyper-igm-syndrome/)
- [Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage](https://scholariq.org/papers/phosphoinositide-3-kinase-gene-mutation-predisposes-to-respiratory-infection-and/)
- [The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies](https://scholariq.org/papers/the-2017-iuis-phenotypic-classification-for-primary-immunodeficiencies/)
- [Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study](https://scholariq.org/papers/clinical-spectrum-and-features-of-activated-phosphoinositide-3-kinase-syndrome-a/)
- [Transfusion-related Acute Lung Injury Associated with Passive Transfer of Antileukocyte Antibodies](https://scholariq.org/papers/transfusion-related-acute-lung-injury-associated-with-passive-transfer-of/)
## Topic primary papers
Showing 15 of 17.
- [LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia](https://scholariq.org/papers/lef-1-is-crucial-for-neutrophil-granulocytopoiesis-and-its-expression-is/)
- [Requirement of Endogenous Stem Cell Factor and Granulocyte-Colony-Stimulating Factor for IL-17-Mediated Granulopoiesis](https://scholariq.org/papers/requirement-of-endogenous-stem-cell-factor-and-granulocyte-colony-stimulating/)
- [High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia](https://scholariq.org/papers/high-frequency-of-gata2-mutations-in-patients-with-mild-chronic-neutropenia/)
- [Association of Neutrophil-to-Lymphocyte Ratio With Mortality and Cardiovascular Disease in the Jackson Heart Study and Modification by the Duffy Antigen Variant](https://scholariq.org/papers/association-of-neutrophil-to-lymphocyte-ratio-with-mortality-and-cardiovascular/)
- [Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome](https://scholariq.org/papers/mutations-in-i-efl1-i-an-i-sbds-i-partner-are-associated-with-infantile/)
- [Immune function in patients with Shwachman–Diamond syndrome](https://scholariq.org/papers/immune-function-in-patients-with-shwachman-diamond-syndrome/)
- [The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy](https://scholariq.org/papers/the-thr224asn-mutation-in-the-vps45-gene-is-associated-with-the-congenital/)
- [Incidence, Clinical Features, and Outcomes of Late‐Onset Neutropenia From Rituximab for Autoimmune Disease](https://scholariq.org/papers/incidence-clinical-features-and-outcomes-of-late-onset-neutropenia-from/)
- [Cost-effectiveness of HLA-DQB1/HLA-B pharmacogenetic-guided treatment and blood monitoring in US patients taking clozapine](https://scholariq.org/papers/cost-effectiveness-of-hla-dqb1-hla-b-pharmacogenetic-guided-treatment-and-blood/)
- [A Comparative Investigation of the Analgesic Effects of Metamizole and Paracetamol in Rats](https://scholariq.org/papers/a-comparative-investigation-of-the-analgesic-effects-of-metamizole-and/)
- [Dipyrone-induced oligohydramnios and ductus arteriosus restriction.](https://scholariq.org/papers/dipyrone-induced-oligohydramnios-and-ductus-arteriosus-restriction/)
- [Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation](https://scholariq.org/papers/delayed-puberty-and-gonadal-failure-in-patients-with-hax1-mutation/)
- [Pulmonary adverse events in unrelated donors of peripheral blood stem cells](https://scholariq.org/papers/pulmonary-adverse-events-in-unrelated-donors-of-peripheral-blood-stem-cells/)
- [Neutropenia in pediatric heart transplant recipients](https://scholariq.org/papers/neutropenia-in-pediatric-heart-transplant-recipients/)
- [De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia](https://scholariq.org/papers/de-novo-deep-intron-elane-mutation-resulting-in-severe-congenital-neutropenia/)
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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.