Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | Persistent or intermittent neutropenia |
Human | SMARCAL1 | 50485 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | |
Human | SLCO1B3 | 28234 | solute carrier organic anion transporter family, member 1B3 | SNPs in and SLCO1B3 may predict the risk of leukopenia/neutropenia induced by docetaxel chemotherapy |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
Human | MASP2 | 10747 | mannan-binding lectin serine peptidase 2 | In this study, MASP-2 deficiency was associated with an increased risk of fever and neutropenia in children treated with chemotherapy for cancer |
Human | SLC35A1 | 10559 | solute carrier family 35 (CMP-sialic acid transporter), member A1 | |
Human | RECQL4 | 9401 | RecQ protein-like 4 | RECQL4 mutations were not found in poikiloderma with neutropenia in Navajo and non-Navajo patients |
Human | RFXANK | 8625 | regulatory factor X-associated ankyrin-containing protein | |
Human | AP3B1 | 8546 | adaptor-related protein complex 3, beta 1 subunit | Two nonsense mutations in ADTB3A, C1578T (R-->X) and G2028T (E-->X), result in lack of ADTB3A mRNA and beta3A protein production and a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency |
Human | RMRP | 6023 | RNA component of mitochondrial RNA processing endoribonuclease | |
Human | RFXAP | 5994 | regulatory factor X-associated protein | |
Human | RFX5 | 5993 | regulatory factor X, 5 (influences HLA class II expression) | |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | CIITA | 4261 | class II, major histocompatibility complex, transactivator | |
Human | ITPA | 3704 | inosine triphosphatase (nucleoside triphosphate pyrophosphatase) | Genetic polymorphism of inosine triphosphate pyrophosphatase (ITPA) is a significant determinant of mercaptopurine metabolism and neutropenia in acute lymphoblastic leukemia patients |
Human | IFNG | 3458 | interferon, gamma | As a surrogate of cytotoxic activity, we found markedly increased production of interferon-gamma in most of the neutropenia patients, irrespective of the presence of immunodominant CTL clones |
Human | GSS | 2937 | glutathione synthetase | |
Human | GFI1 | 2672 | growth factor independent 1 transcription repressor | Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 |
Human | SLC37A4 | 2542 | solute carrier family 37 (glucose-6-phosphate transporter), member 4 | |
Human | FMO3 | 2328 | flavin containing monooxygenase 3 | |
Human | FANCA | 2175 | Fanconi anemia, complementation group A | |
Human | ELANE | 1991 | elastase, neutrophil expressed | Title:Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81patients from the French Neutropenia Register.|Association:Not Found|Conclusion:This study underlines the importance of ELA2 molecular screening to identify patients who may be at particular risk of severe bacterial infections and/or acute myeloid leukemia/myelodysplasia. By phenotypic analysis of affected relatives and carriers of the same ELA2 mutations, we showed that the expression of neutropenia in CN and SCN may be either homogeneous or variable according to the type of mutations, suggesting different pathogenetic mechanisms. the expression of neutropenia in cyclic and severe congenital neutropenia may be either homogeneous or variable according to the type of mutations, suggesting different pathogenetic mechanisms neutrophil elastase mutations play a role in human hereditary neutropenia, as shown in a dog model [review] Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 data suggest mechanisms by which NE mutations cause neutropenia and suggest that abnormal protein trafficking and accelerated apoptosis of differentiating myeloid cells contribute to the severe congenital neutropenia phenotype of the G185R mutation REVIEW: role of ela2 germline mutations in inherited neutropenia, gene feedback circuits, signalling genetics, and proposal that neutrophil elastase acts as an inhibitor of myelopoiesis |