protocolSection identificationModule nctId: NCT06278337, orgStudyIdInfo id: C19-35, briefTitle: X-linked Moesin Associated Immunodeficiency, acronym: X-MAIDReg, statusModule overallStatus: RECRUITING, startDateStruct date: 2021-08-12, primaryCompletionDateStruct date: 2026-08-12, completionDateStruct date: 2027-01-12, studyFirstPostDateStruct date: 2024-02-26, lastUpdatePostDateStruct date: 2024-02-26, sponsorCollaboratorsModule leadSponsor name: Institut National de la Santé Et de la Recherche Médicale, France, class: OTHER_GOV, descriptionModule briefSummary: Moesin deficiency was initially described in 7 male participants aged 4 to 69 years and is characterized by lymphopenia of the 3 lineages and moderate neutropenia. Genetically, 6 out of 7 participants had the same missense mutation in the moesin gene located on the X chromosome. The 7th patient has a mutation leading to the premature introduction of a STOP codon into the protein.Clinically the 7 participants with X-linked moesin-associated immunodeficiency all presented with recurrent bacterial infections of the respiratory, gastrointestinal or urinary tracts, and some had severe varicella.Therapeutically, in the absence of a molecular diagnosis and due to his SCID-like phenotype, one patient was treated with geno-identical hematopoietic stem cell transplantation . The remaining are untreated or treated with immunoglobulin substitution and/or prophylactic antibiotics.Since this study, the moesin gene has been integrated into DNA chips used for the molecular diagnosis of immune deficiencies in several countries. Physicians in Canada, the United States, Japan, South Africa and Europe have contacted us with a total of 16 known participants to date. Because of their very low severe, uncontrolled CMV infection and the absence of treatment recommendations, two 2 American participants were treated with allogeneic transplantation with severe post-transplant complications (1), and one of the participants died as a result of the transplant. Management of XMAID participants therefore varies widely from country to country, depending on age at diagnosis and clinical picture. It ranges from no treatment treatment (associated with recurrent infections and skin manifestations), IgIv substitution and/or antibiotic prophylaxis antibiotic prophylaxis, with low toxicity and apparent efficacy, and allogeneic transplantation, with all the risks risks involved (graft-related toxicity, graft versus host, disease, rejection, risk of infection). The Investigators therefore feel it is important to review the diagnosis, clinical presentation and management of X-MAID participants. The study the investigator propose will enable to understand the presentation of X-MAID participants, establish guidelines and provide the best treatment for each patient according to his or her clinical picture, conditionsModule conditions: Immune Deficiency, conditions: Autoimmune Diseases, conditions: Infections, conditions: Diagnosis, designModule studyType: OBSERVATIONAL, designInfo observationalModel: OTHER, timePerspective: RETROSPECTIVE, enrollmentInfo count: 16, type: ESTIMATED, armsInterventionsModule interventions name: genetic restrospective study, outcomesModule primaryOutcomes measure: The main objective, secondaryOutcomes measure: Secondary objectives1, otherOutcomes measure: secondary objectives 2, otherOutcomes measure: secondary objective 3, otherOutcomes measure: secondary objectives 4, otherOutcomes measure: secondary objective 5, eligibilityModule sex: MALE, minimumAge: 4 Years, maximumAge: 80 Years, stdAges: CHILD, stdAges: ADULT, stdAges: OLDER_ADULT, contactsLocationsModule locations facility: National Institutes of Health, status: NOT_YET_RECRUITING, city: Bethesda, state: Maryland, zip: 20892, country: United States, contacts name: Luigi Notarangelo, Doctor, role: CONTACT, geoPoint lat: 38.98067, lon: -77.10026, locations facility: Perelman School of medecine, status: NOT_YET_RECRUITING, city: Philadelphia, state: Pennsylvania, zip: 19050, country: United States, contacts name: Jennifer Heimall, Pr, role: CONTACT, geoPoint lat: 39.95233, lon: -75.16379, locations facility: Brown University, status: NOT_YET_RECRUITING, city: Providence, state: Rhode Island, zip: 02912, country: United States, contacts name: Anthony Hayward, role: CONTACT, geoPoint lat: 41.82399, lon: -71.41283, locations facility: Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation, status: NOT_YET_RECRUITING, city: Brisbane, zip: 4001, country: Australia, contacts name: Lyn Griffith, Pr, role: CONTACT, geoPoint lat: -27.46794, lon: 153.02809, locations facility: Hôpital Universitaire de la Reine Fabiola, status: NOT_YET_RECRUITING, city: Bruxelles, zip: 1020, country: Belgium, contacts name: Catherine Heijmans, Doctor, role: CONTACT, geoPoint lat: 50.85045, lon: 4.34878, locations facility: Hôpital Necker, status: RECRUITING, city: Paris, zip: 75015, country: France, contacts name: Benedicte NEVEN, role: CONTACT, geoPoint lat: 48.85341, lon: 2.3488, locations facility: CHU Rennes, CNRS UMR 629, status: RECRUITING, city: Rennes, zip: 35000, country: France, contacts name: Virginie Gandemer, Doctor, role: CONTACT, geoPoint lat: 48.11198, lon: -1.67429, locations facility: CHU St Etienne Hôpital Nord, status: NOT_YET_RECRUITING, city: Saint-Étienne, zip: 42270, country: France, contacts name: Jean-Louis STEPHAN, Doctor, role: CONTACT, geoPoint lat: 45.43389, lon: 4.39, locations facility: Tokyo Medical and Dental University (TMDU), status: NOT_YET_RECRUITING, city: Bunkyō-Ku, zip: 1138510, country: Japan, contacts name: Kohsuke Imai, Pr, role: CONTACT, geoPoint lat: 35.37517, lon: 139.92991, locations facility: Departments of Internal Medicine and Immunology, status: NOT_YET_RECRUITING, city: Rotterdam, country: Netherlands, contacts name: Virgil Dalm, role: CONTACT, geoPoint lat: 51.9225, lon: 4.47917, hasResults: False