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Monocytopenia with Susceptibility to Infections



  • When present, the cytogenetic abnormalities in MonoMAC and other GATA2 deficiency phenotypes are heterogeneous and have included monosomy 7, trisomy 8, trisomy 1q, and monosomy 6.[haematologica.org]
  • MonoMAC is a life-threatening and precancerous disorder. [1] [2] Inactivating mutations in one of the two parental GATA2 genes is responsible for the many diverse presentations of a genetic disorder that groups these presentations together into a single[en.wikipedia.org]
  • Richard Stiehm, professor of paediatrics in the division of allergy, immunology and rheumatology at Mattel Children's Hospital at the University of California at Los Angeles (UCLA), was presented with the 2007 Abbott Laboratories Award.[books.google.com]
  • In the present study, we describe the initial identification by exome sequencing of a GATA2 R396Q mutation in a family with a history of chronic mild neutropenia evolving to AML and/or MDS.[poletechno-crct.inserm.fr]
  • […] patients with similar presentations.[frontiersin.org]
  • Patients with cytopenias and hypoplastic or aplastic bone marrows who have a history of MAC infections, HPV infections, familial MDS/AML and/or lymphedema warrant further investigation for germline GATA2 mutations.[haematologica.org]
  • A subset of patients are diagnosed with Emberger’s syndrome, a condition that is characterized by primary lymphedema, cutaneous warts, deafness, and a susceptibility to MDS/ AML.[invitae.com]
  • Ishida H, Imai K, Honma K, Tamura S, Imamura T, Ito M, Nonoyama S (2012) GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia.[link.springer.com]
  • Mansour S et al. (2010) Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. [ ] 3.[moldiag.com]
  • The mother in kindred 13 had significantlyreduced monocytes, B and NK cells, warts, and lymphedema butremains otherwise healthy.[documents.tips]
Leg Swelling
  • Muszynski MA, Zerbe C, Holland SM, Kong HH (2014) A woman with warts, leg swelling, and deafness. J Am Acad Dermatol 71:577–80 CrossRef PubMed Google Scholar 10.[link.springer.com]
  • […] impact of monosomal karyotype in young adult and elderly acute myeloid leukemia the Southwest Oncology Group SWOG experience Increased adhesive properties of platelets in sickle cell disease roles for alphaIIb beta3mediated ligand binding diminished cAMP[books.google.com]
  • Alternative modes of GMCSF receptor activation revealed using activated mutants of the common betasubunit Gangrenous cheilitis associated with alltrans retinoic acid therapy for acute promyelocytic leukemia The impact of bleeding history von Willebrand[books.google.com]
Hearing Impairment
  • impairment Sensorineural hearing impairment Acrania Recurrent otitis media Intellectual disability, mild Thrombocytosis Asthenia Ataxia Nevus Peripheral neuropathy Hypertension Interstitial pneumonitis Ptosis Glomerulonephritis Hemophagocytosis Epistaxis[mendelian.co]
  • Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children.[books.google.com]


  • […] center experience Umbilical cord blood transplantation from unrelated donors in adult patients with chronic myeloid leukaemia Coexpression of the Tcell receptor constant alpha domain triggers tumor reactivity of singlechain TCRtransduced human T cells Erythrocytosis[books.google.com]
Mycobacterium Avium Complex
  • avium complex infections 0011275 Recurrent viral infections 0004429 Showing of 12 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]
  • Not to be confused with the .Net bindings MonoMac. monoMAC syndrome Other names MonoMAC/DCML, monocytopenia and mycobacterium avium complex/dendritic cell, monocyte, B and NK lymphocyte deficiency Specialty Medical genetics MonoMAC syndrome is a rare[en.wikipedia.org]
  • Keywords GATA2 mutation Monocytopenia Mycobacterium avium complex Panniculitis Pseudovasculitis Rheumatologic manifestations Systematic review Vasculitis This is a preview of subscription content, log in to check access. References 1.[link.springer.com]
  • Mycobacterium avium complex pulmonary disease presenting as an isolated lingular or middle lobe pattern.[em-consulte.com]
  • (Blood.2011;118(10):2653-2655)IntroductionWe recently described a novel inherited immunodeficiency clini-cally characterized by disseminated nontuberculous mycobacterialinfections (typically Mycobacterium avium complex [MAC]),opportunistic fungal infections[documents.tips]
Plasmodium Falciparum
  • falciparum transmission area mTOR and GSK3 shape the CD4 Tcell stimulatory and differentiation capacity of myeloid DCs after exposure to LPS PGE2 transiently enhances DC expression of CCR7 but inhibits the ability of DCs to produce CCL19 and attract[books.google.com]


  • Treatment Bone Marrow Transplants are currently the only treatment.[ipfs.io]
  • A study on 153 patients from a single institution Genetic evidence for a predominant role of PI3Kbeta catalytic activity in ITAM and integrinmediated signaling in platelets Treatment options in heparininduced thrombocytopenia Treatment advances in posttransplant[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • You can help by adding to it. ( December 2017 ) Treatment [ edit ] Bone Marrow Transplants are currently the only treatment.[en.wikipedia.org]


  • Acute leukaemias of ambiguous lineage in children characterization prognosis and therapy recommendations The genetics of normal platelet reactivity BetaspectrinBari a truncated betachain responsible for dominant hereditary spherocytosis Predictive value[books.google.com]
  • Pneumonia, pyelonephritis, cellulitis, soft tissue infection, bacteremia, sepsis, meningitis, or endocarditis is all associated with neutrophilia, and, indeed, patients who fail to mount a significant leukocyte response to pyogenic infection have a worse prognosis[antimicrobe.org]
  • The prognosis of individuals with GATA2 mutations is difficult to establish due to high clinical variability, incomplete penetrance and lack of close phenotype-genotype correlation data [ 8, 9, 18 ].[bmcpulmmed.biomedcentral.com]
  • […] recommended that patients with good performance status, where life prolonging treatment options are available- especially patients with new or recent diagnosis of leukemia, should be given the benefit of intensive care support, while patients with poor prognosis[intechopen.com]


  • M iscellaneous Etiologies of Neutropenia Selected etiologies of neutropenia are noted in Table 4. The clinician should approach leukopenia by one of the mechanisms noted in the above section.[antimicrobe.org]
  • This report is intended to increase clinician awareness of the possibility of underlying immunodeficiency syndromes in patients who present with disseminated fungal disease with an unclear etiology and may provide insight in diagnosing and further managing[frontiersin.org]
  • An intriguing issue is the etiology of the chronic diffuse parenchymal lung tissue changes in our patient in the absence of respiratory symptoms.[bmcpulmmed.biomedcentral.com]


  • Abstract: This is a review of the epidemiology and management of infectious complications in contemporary management of chronic leukemias.[eurekaselect.com]
  • Antifungal drug resistance: mechanisms, epidemiology, and consequences for treatment. Am J Med. 2012; 125:S3-13. (12.) Fothergill AW, Sutton DA, McCarthy DI, Wiederhold NP.[thefreelibrary.com]
  • ADFncofilindependent actin turnover determines platelet formation and sizing The Haematological Malignancy Research Network HMRN a new information strategy for population based epidemiology and health service research Melphalan 200 mgm2 versus melphalan[books.google.com]
  • Appreciating this epidemiologic fact may prevent needless evaluation of a low-normal leukocyte count in an otherwise healthy black patient with normal peripheral blood smear cyto-morphology.[antimicrobe.org]
  • The epidemiology of BSI is included in Table 1 . Coagulase negative staphylococci, Staphylococcus aureus, Viridans streptococci, and gram negatives are the most likely pathogens.[intechopen.com]
Sex distribution
Age distribution


  • Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children.[books.google.com]


  • Ask your doctor about Neupogen for treatment of prevention of low white counts.[lymphomation.org]
  • Careful blood sugar control is important during any infection to promote healing and prevent further complications related to the infection. Thanks for your feedback![verywell.com]
  • Lifestyle Changes While undergoing medical treatment, it is important to follow a balanced, nutritious diet and take precautions to prevent the spread of infection.[healthfully.com]
  • […] that when a patient presents with invasive fungal disease without clear predisposing factors, the clinician should consider underlying immunodeficiencies so that proper treatment may be initiated to control spread of the disease to other organs and prevent[frontiersin.org]
  • Intravenous immunoglobulin (IVIG): IVIG is not routinely advised in patients with CLL due to lack of known benefit in preventing life threatening infections.[intechopen.com]

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