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6,771 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Recurrent Infection

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[] In one of our patients and one previously reported individual with WSS [ 9 ], there is history of recurrent infections, though it remains unclear whether their immune dysfunction[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[]

  • Rubinstein-Taybi Syndrome

    It is estimated that approximately 75% of patients with RTS experience recurrent respiratory infections.[] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections[] The disease characterized by mental retardation, skeletal changes, hearing impairment, and recurrent infections.[] Major symptoms include mental retardation, skeletal changes and recurrent infections.[]

    Missing: Mutation in the MLL Gene
  • Acute Lymphoblastic Leukemia Type L1

    Children who develop ALL in the first year of life have a very poor prognosis, especially if their leukemia cells contain a mutated gene called MLL.[] For example, patients who have recurrent herpes virus infections are often managed with prophylactic acyclovir or later-generation antiviral medications.[] We have recently shown that FLT3 is highly expressed and often mutated in ALLs with rearrangement of the mixed lineage leukemia ( MLL ) gene on chromosome 11q23.[]

    Missing: Hypertrichosis of Eyebrows
  • Acute Myelocytic Leukemia

    Symptoms of imminent bone marrow failure may be anemia, recurrent infections with opportunistic pathogens and a propensity to bleed.[] They include internal tandem duplication of the FLT3 gene, partial tandem duplication of the MLL gene, mutations of the CEBPA and NPM1 genes and aberrant expression of the[] These genes include FLT3, IDH1, IDH2, and MLL. Targeted therapies often have fewer side effects than conventional chemotherapy drugs.[]

    Missing: Hypertrichosis of Eyebrows
  • Congenital Neutropenia

    Molecular analyses for SCN causing mutations (ELA-2, HAX-1 and G6PC3) and for somatic mutations of the CSF3R gene were negative.[] Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea.[] Recurrent and severe infections should alert physicians to possible immunodeficiency disease.[]

    Missing: Hypertrichosis of Eyebrows
  • B-Cell Lymphoma

    […] found mutated are DIS3 , a gene involved in mRNA processing, and a number of genes with epigenetic activities such as MLL, MLL2, MLL3 and UTX . 15 Therapeutic targeting of[] Disease description A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T[] […] cases. 15 These findings have provided a rationale for the successful usage of NF-kB inhibitors, including drugs such as thalidomide, lenalidomide and bortezomib. 101 Other genes[]

    Missing: Hypertrichosis of Eyebrows
  • Myelodysplasia

    Prior treatment with chemo- or radiotherapy brings about genetic alterations that primarily include MLL gene.[] For thymoma patients with recurrent infections, comprehensive immunologic studies to exclude the possibility of Good's syndrome and prophylactic intravenous immunoglobulin[] A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell[]

    Missing: Hypertrichosis of Eyebrows
  • Hodgkin Lymphoma

    In this patient the stimulation of an immune response by the acute viral infection mimics recurrent lymphoma.[] gene.[] Other symptoms may include: recurrent fevers excessive sweating at night unintentional weight loss persistent fatigue and lack of energy generalised itching or a rash.[]

    Missing: Hypertrichosis of Eyebrows
  • B Acute Lymphoblastic Leukemia

    infections.[] Children who develop ALL in the first year of life have a very poor prognosis, especially if their leukemia cells contain a mutated gene called MLL.[] In cycles of two to three years, patients are routinely tested, given medication to kill any possible remaining infected cells and prevent further recurrence.[]

    Missing: Hypertrichosis of Eyebrows

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