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Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation. 2010

Barbara Maria Pietrucha, and Edyta Heropolitańska-Pliszka, and Anna Wakulińska, and Hanna Skopczyńska, and Richard A Gatti, and Ewa Bernatowska
Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland. barbara.p@rocketmail.com

Ataxia-telangiectasia is an autosomal recessive disorder caused by mutation in the ATM gene. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasiae, cancer susceptibility, and variable humoral and cellular immunodeficiency. We report a patient who, because of the pattern of her immunodeficiency, was primarily diagnosed as an autosomal recessive hyper-IgM syndrome. Only a mild cerebellar ataxia was present at the age of 7 years then she developed a Wilms tumor (nephroblastoma). Conventional radiotherapy for the malignancy led to fatal consequences. Postmortem studies confirmed diagnosis of ataxia-telangiectasia.

UI MeSH Term Description Entries
D009396 Wilms Tumor A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. Bilateral Wilms Tumor,Nephroblastoma,Wilms Tumor 1,Wilms' Tumor,Nephroblastomas,Tumor, Bilateral Wilms,Tumor, Wilms,Tumor, Wilms',Wilm Tumor,Wilm's Tumor,Wilms Tumor, Bilateral
D011878 Radiotherapy The use of IONIZING RADIATION to treat malignant NEOPLASMS and some benign conditions. Radiotherapy, Targeted,Targeted Radiotherapy,Radiation Therapy,Radiation Therapy, Targeted,Radiation Treatment,Targeted Radiation Therapy,Radiation Therapies,Radiation Therapies, Targeted,Radiation Treatments,Radiotherapies,Radiotherapies, Targeted,Targeted Radiation Therapies,Targeted Radiotherapies,Therapies, Radiation,Therapies, Targeted Radiation,Therapy, Radiation,Therapy, Targeted Radiation,Treatment, Radiation
D002524 Cerebellar Ataxia Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90) Adiadochokinesis,Ataxia, Cerebellar,Cerebellar Dysmetria,Dysmetria,Cerebellar Hemiataxia,Cerebellar Incoordination,Hypermetria,Adiadochokineses,Ataxias, Cerebellar,Cerebellar Ataxias,Cerebellar Dysmetrias,Cerebellar Hemiataxias,Cerebellar Incoordinations,Dysmetria, Cerebellar,Dysmetrias,Dysmetrias, Cerebellar,Hemiataxia, Cerebellar,Hemiataxias, Cerebellar,Hypermetrias,Incoordination, Cerebellar,Incoordinations, Cerebellar
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001260 Ataxia Telangiectasia An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). Louis-Bar Syndrome,Ataxia Telangiectasia Syndrome,Ataxia-Telangiectasia,Telangiectasia, Cerebello-Oculocutaneous,Louis Bar Syndrome,Syndrome, Ataxia Telangiectasia,Syndrome, Louis-Bar
D053306 Hyper-IgM Immunodeficiency Syndrome A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. Hyper-IgM Immunodeficiency Syndrome, Type 2,Hyper-IgM Immunodeficiency Syndrome, Type 3,Hyper-IgM Immunodeficiency Syndrome, Type 5,HIGM2 Syndrome,HIGM3 Syndrome,HIGM5 Syndrome,Hyper-IgM Immunodeficiency Syndrome Type 2,Hyper-IgM Immunodeficiency Syndrome Type 3,Hyper-IgM Immunodeficiency Syndrome Type 5,Hyper-IgM Syndrome,Hyper-IgM Syndrome 2,Hyper-IgM Syndrome 3,Hyper-IgM Syndrome 5,Immunodeficiency with Hyper-IgM Syndrome,Immunodeficiency with Hyper-IgM, Type 2,Immunodeficiency with Hyper-IgM, Type 3,Immunodeficiency with Hyper-IgM, Type 5,HIGM2 Syndromes,HIGM3 Syndromes,HIGM5 Syndromes,Hyper IgM Immunodeficiency Syndrome,Hyper IgM Immunodeficiency Syndrome Type 2,Hyper IgM Immunodeficiency Syndrome Type 3,Hyper IgM Immunodeficiency Syndrome Type 5,Hyper IgM Immunodeficiency Syndrome, Type 2,Hyper IgM Immunodeficiency Syndrome, Type 3,Hyper IgM Immunodeficiency Syndrome, Type 5,Hyper IgM Syndrome,Hyper IgM Syndrome 2,Hyper IgM Syndrome 3,Hyper IgM Syndrome 5,Hyper-IgM Immunodeficiency Syndromes,Hyper-IgM Syndrome 5s,Hyper-IgM Syndromes,Immunodeficiency Syndrome, Hyper-IgM,Immunodeficiency Syndromes, Hyper-IgM,Immunodeficiency with Hyper IgM Syndrome,Immunodeficiency with Hyper IgM, Type 2,Immunodeficiency with Hyper IgM, Type 3,Immunodeficiency with Hyper IgM, Type 5,Syndrome, Hyper-IgM Immunodeficiency,Syndromes, Hyper-IgM Immunodeficiency
D017809 Fatal Outcome Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal

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