Disease #04516

Official abbreviation IMD-30
Name immunodeficiency, type 30 (IMD-30)
OMIM ID 614891
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 179
Phenotype entries for this disease 172
Associated with 1 gene IL12RB1
Associated tissues -
Disease features -
Remarks -


Individuals

179 entries on 2 pages. Showing entries 1 - 100.
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Genes screened

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00260830 - PubMed: Louvain de Souza 2017 this patient was previously entered in the database as: UENF - Family 1528 (F1) M yes Brazil - - 0 - - IMD-30 IMD30, IL-12RB1 deficiency, MSMD IFNGR2 IFNGR2, IL12RB1 2 1 Enrique Medina-Acosta
00260950 - PubMed: Louvain de Souza 2017 1 family 2 patients; before publication in database as: UENF - Family 830 (F1) M no Brazil - - 0 - - IMD-30 IMD30, IL-12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 2 Enrique Medina-Acosta
00260951 - PubMed: Louvain de Souza 2017 before publication this individual was in the database as: UENF - Family 1212 (F1) M no Brazil - - 0 - - IMD-30 IMD30, IL-12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 1 Enrique Medina-Acosta
00260952 - PubMed: Aytekin 2011 - M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260953 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - IMD-30 Disseminated BCG, Candida infection IL12RB1 IL12RB1 1 1 -
00260954 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - IMD-30 localized BCG infection IL12RB1 IL12RB1 1 1 -
00260955 - PubMed: de Beaucoudrey 2010 - M yes Tunisia - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260956 - personal communication Ozden Sanal 1 family 2 patients; data not published yet - yes Turkey - - 0 - - IMD-30 M.bovis BCG infection IL12RB1 IL12RB1 1 2 -
00260957 - personal communication Ozden Sanal data not published yet - yes Turkey - - 0 - - IMD-30 salmonella infection IL12RB1 IL12RB1 1 1 -
00260958 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - M yes Turkey - - 0 - - IMD-30 BCG infection IL12RB1 IL12RB1 1 1 -
00260959 - PubMed: Tan 2016 - M yes Turkey - - 0 - - IMD-30 IMD30, IL12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 1 -
00260960 - PubMed: Tan 2016 - M yes Turkey - - 0 - - IMD-30 IMD30, IL12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 1 -
00260961 - PubMed: Tan 2016 - M yes Turkey - - 0 - - IMD-30 IMD30, IL12RB1, MSMD IL12RB1 IL12RB1 1 1 -
00260962 - PubMed: Tan 2016 - M yes Turkey - - 0 - - IMD-30 IMD30, IL12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 1 -
00260963 - PubMed: Elloumi-Zghal 2002 - M yes Tunisia - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260964 - PubMed: Haerynck 2008 - F no Belgium - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00260965 - PubMed: Fieschi 2003 12591909-17.II-1 asymptomatic brother with same mutations M no France - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00260966 - PubMed: Fieschi 2003 - F no France - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260967 - PubMed: Fieschi 2003 12591909-21.II.1 asymptomatic sister with same mutation F no Belgium - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260968 - PubMed: de Beaucoudrey 2010 - F yes United Kingdom (Great Britain) - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260969 - {PMID 9603733: de Jong 1998} - F no Netherlands - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 Esther van de Vosse
00260970 - PubMed: de Beaucoudrey 2010 - M no Chile - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00260971 - PubMed: Strickler 2014 and personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis initially entered in the database as: Rockefeller -family 5 M no Chile - - 0 - - IMD-30 BCG infection and CMC IL12RB1 IL12RB1 1 1 -
00260972 - PubMed: Ramirez-Alejo 2013 also reported in: Ramirez-Alejo Immunology2011 P58.5 M yes Mexico - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260973 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - F ? Turkey - - 0 - - IMD-30 BCG infection and Salmonella IL12RB1 IL12RB1 1 2 -
00260974 - PubMed: Fieschi 2003 - M no Brazil - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260975 - PubMed: de Beaucoudrey 2010 - M yes Saudi Arabia - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00260976 - PubMed: de Beaucoudrey 2010 - F yes Saudi Arabia - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260977 - PubMed: de Beaucoudrey 2010 - M yes Saudi Arabia - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260978 - PubMed: de Beaucoudrey 2010 - ? yes Saudi Arabia - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00260979 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - M yes - - - 0 - - IMD-30 BCGosis IL12RB1 IL12RB1 1 1 -
00260980 - PubMed: Schepers 2013 - F no Belgium - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00260981 - PubMed: Luangwedchakarn 2009 Note: patient also has neurofibromatosis M no Thailand - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260982 - PubMed: Lichtenauer-Kaligis 2003 1 family 2 patients; 12594833-B2 affected brother, this patient also described in {PMID 16418797: Sanal 2006} as case 1 M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 Esther van de Vosse
00260983 - PubMed: Fieschi 2003 - F no Slovakia (Slovak Republic) - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00260984 - PubMed: Fieschi 2003 - F no Slovakia (Slovak Republic) - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00260985 - PubMed: Alinejad Dizaj 2018 - F yes Iran - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260986 - PubMed: Boisson-Dupuis 2011 - M yes Iran - - 0 - - IMD-30 Tuberculosis IL12RB1 IL12RB1 1 1 -
00260987 - PubMed: de Beaucoudrey 2010 - F no Brazil - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00260988 - PubMed: de Beaucoudrey 2010 - M yes Venezuela - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260989 - PubMed: de Beaucoudrey 2010 - F no Poland - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260990 - PubMed: Alinejad Dizaj 2018 - M yes Iran - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260991 - PubMed: Aksu 2001 Note: one sister of the index pateint died at age 1 M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260992 - PubMed: Fieschi 2003 - - yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260993 - {PMID 16418797: Sanal 2006} - M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 Esther van de Vosse
00260994 - PubMed: Kutukculer 2006 - F yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260995 - PubMed: de Beaucoudrey 2008 - M - Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260996 - PubMed: van de Vosse 2010 - F yes Netherlands Turkey - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 Esther van de Vosse
00260997 - PubMed: Ozen 2006 - F yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00260998 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 3 -
00260999 - personal communication Ozden Sanal parents are form neighbouring small villages, therefore possibly distantly related/consanguineous ; ; data not published yet - ? Turkey - - 0 - - IMD-30 M.bovis BCG infection IL12RB1 IL12RB1 1 1 -
00261000 - PubMed: Tan 2016 - M yes Turkey - - 0 - - IMD-30 IMD30, IL12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 1 -
00261001 - PubMed: Tan 2016 - M yes Turkey - - 0 - - IMD-30 IMD30, IL12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 1 -
00261002 - PubMed: Tan 2016 - F yes Turkey - - 0 - - IMD-30 IMD30, IL12RB1 deficiency, MSMD IL12RB1 IL12RB1 1 1 -
00261003 - PubMed: Fieschi 2003 1 family 2 patients; 12591909-26.II.1 deceased affected brother F yes Bosnia and Herzegovina - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261004 - PubMed: Elloumi-Zghal 2002 - F yes Tunisia - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261005 - PubMed: Fieschi 2003 - F yes Qatar - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261006 - PubMed: Fieschi 2003 1 family 2 patients; 12591909-12.II.4 affected sister M yes Qatar - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261007 - PubMed: Ehlayel 2008 patient also has a mutation in AT gene F yes Qatar Arab - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261008 - PubMed: de Beaucoudrey 2010 family of 12.II.1 in {PMID 12591909: Fieschi 2003} M yes Qatar - - 0 - - IMD-30 disseminated BCG IL12RB1 IL12RB1 1 1 -
00261009 - PubMed: de Beaucoudrey 2010 - F yes Qatar - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261010 - PubMed: Vinh 2011 1 family 2 patients; 21258095-P2 affected brother F yes United States Palestine - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261011 - personal communication Ben Zion Garty - F yes Israel Arab - 0 - - IMD-30 Salmonellosis IL12RB1 IL12RB1 1 1 -
00261012 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - F yes Israel - - 0 - - IMD-30 BCGitis and CMC IL12RB1 IL12RB1 1 1 -
00261013 - {PMID 9603733: de Jong 1998} also reported in {PMID 12594833: Lichtenauer-Kaligis 2003} F yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 Esther van de Vosse
00261014 - PubMed: Fieschi 2003 - F yes - Turkey - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261015 - PubMed: Strickler 2014 and personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis 1 family 2 patients; initially entered in this database as: Rockefeller -family 11 F yes Chile - - 0 - - IMD-30 BCG infection IL12RB1 IL12RB1 1 2 -
00261016 - PubMed: de Beaucoudrey 2010 - M yes Iran - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261017 - PubMed: Ramirez-Alejo 2013 A sister died of sepsis 40 days after birth, no gnetic analysis performed at the time.; This patient first reported in abstract: Ramirez-Alejo CIS2012 P398 F no Mexico - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261018 - PubMed: de Beaucoudrey 2008 - F - Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261019 - PubMed: de Beaucoudrey 2008 - M - Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261020 - PubMed: de Beaucoudrey 2010 - F yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261021 - PubMed: Lichtenauer-Kaligis 2003 - M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 Esther van de Vosse
00261022 - PubMed: Ramirez-Alejo 2013 - F no Mexico - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261023 - PubMed: Jinapongsananuruk 2012 - M no Thailand - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00261024 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - F no Russian Federation - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00261025 - PubMed: Tanir 2006 - M - Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261026 - PubMed: de Beaucoudrey 2010 1 family 2 patients +1 previous; this patient and #56 are family of 16501992-3; M ? Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261027 - PubMed: Gokturk 2016 previously entered in this database as: Rockefeller -family 16 by personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis F yes Turkey - - 0 - - IMD-30 Salmonellosis + CMC (+ probably mycobacterial lymphadenitis) IL12RB1 IL12RB1 1 1 -
00261028 - PubMed: Lee 2009 - M no Taiwan - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261029 - PubMed: de Beaucoudrey 2010 - M no China - - 0 - - IMD-30 - IL12RB1 IL12RB1 2 1 -
00261030 - PubMed: Sakai 2001 - M yes Japan - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261031 - PubMed: Altare 2001 - M yes Morocco - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261032 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - M ? Turkey living in Belgium - 0 - - IMD-30 M.genavense infection IL12RB1 IL12RB1 1 1 -
00261033 - PubMed: Ramirez-Alejo 2013 - M yes Mexico - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261034 - PubMed: Scheuerman 2007 - M yes Israel Bedouin Arab - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261035 - PubMed: de Beaucoudrey 2010 1 family 2 patients +1 previous; family of previously reported patient in {PMID 17710793: Scheuerman 2007}; sibling 21057261-61 is asymptomatic; F yes Israel Arab - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261036 - PubMed: Staretz-Haham 2003PubMed: Ling 2016 1 family 1 patient +3 additional; index patient also published as 10.II.2 in {PMID 12591909: Fieschi 2003}; cousins published in {PMID26761636:Ling 2016}; M yes Israel Bedouin Arab - 0 - - IMD-30 - IL12RB1 IL12RB1 1 4 -
00261037 - PubMed: Tanir 2006 - F - Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261038 - PubMed: Lichtenauer-Kaligis 2003 - M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 Esther van de Vosse
00261039 - PubMed: Lichtenauer-Kaligis 2003 - F yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 Esther van de Vosse
00261040 - PubMed: Fieschi 2003 1 family 2 patients; 12591909-6.II.3 affected sib F yes (Sweden) Turkish Kurd - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 -
00261041 - {PMID 16418797: Sanal 2006} 1 family 2 patients; Note: sister died at age 4 of disseminated BCG infection, no genetic analysis M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 2 Esther van de Vosse
00261042 - PubMed: Tanir 2006 - M - Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261043 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261044 - PubMed: de Beaucoudrey 2010 - F yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261045 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
00261046 - PubMed: Filiz 2012 - F yes Turkey - - 0 - - IMD-30 Cutaneous Leukocytoclastic Vasculitis due to Salmonella enteritidis IL12RB1 IL12RB1 1 1 -
00261047 - Zinovieva ESID2012 P605 1 family 2 patients or 2 families 1 patient; two sisters or two unrelated patients? F ? Russian Federation - - 0 - - IMD-30 BCG and salmonellosis, recurrent vasculitis IL12RB1 IL12RB1 1 2 -
00261048 - - - F yes Turkey - - 0 - - IMD-30 - IL12RB1 IL12RB1 1 1 -
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