All individuals with variants in gene IL12RB1

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

190 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00260658	-	http://www.ncbi.nlm.nih.gov/snp/	-	-	?	-	-	-	-	-	-	Healthy/Control	-	115	1	LOVD
00260830	-	PubMed: Louvain de Souza 2017	this patient was previously entered in the database as: UENF - Family 1528 (F1)	M	yes	Brazil	-	-	-	-	-	IMD30	IMD30, IL-12RB1 deficiency, MSMD	1	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	-	-	-	-	-	IMD30	IMD30, IL-12RB1 deficiency, MSMD	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	-	-	-	-	-	IMD30	IMD30, IL-12RB1 deficiency, MSMD	1	1	Enrique Medina-Acosta
00260952	-	PubMed: Aytekin 2011	-	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00260953	-	PubMed: de Beaucoudrey 2010	-	M	yes	Turkey	-	-	-	-	-	IMD30	Disseminated BCG, Candida infection	1	1	LOVD
00260954	-	PubMed: de Beaucoudrey 2010	-	M	yes	Turkey	-	-	-	-	-	IMD30	localized BCG infection	1	1	LOVD
00260955	-	PubMed: de Beaucoudrey 2010	-	M	yes	Tunisia	-	-	-	-	-	IMD30	-	1	1	LOVD
00260956	-	personal communication Ozden Sanal	1 family 2 patients; data not published yet	-	yes	Turkey	-	-	-	-	-	IMD30	M.bovis BCG infection	1	2	LOVD
00260957	-	personal communication Ozden Sanal	data not published yet	-	yes	Turkey	-	-	-	-	-	IMD30	salmonella infection	1	1	LOVD
00260958	-	personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	-	M	yes	Turkey	-	-	-	-	-	IMD30	BCG infection	1	1	LOVD
00260959	-	PubMed: Tan 2016	-	M	yes	Turkey	-	-	-	-	-	IMD30	IMD30, IL12RB1 deficiency, MSMD	1	1	LOVD
00260960	-	PubMed: Tan 2016	-	M	yes	Turkey	-	-	-	-	-	IMD30	IMD30, IL12RB1 deficiency, MSMD	1	1	LOVD
00260961	-	PubMed: Tan 2016	-	M	yes	Turkey	-	-	-	-	-	IMD30	IMD30, IL12RB1, MSMD	1	1	LOVD
00260962	-	PubMed: Tan 2016	-	M	yes	Turkey	-	-	-	-	-	IMD30	IMD30, IL12RB1 deficiency, MSMD	1	1	LOVD
00260963	-	PubMed: Elloumi-Zghal 2002	-	M	yes	Tunisia	-	-	-	-	-	IMD30	-	1	1	LOVD
00260964	-	PubMed: Haerynck 2008	-	F	no	Belgium	-	-	-	-	-	IMD30	-	2	1	LOVD
00260965	-	PubMed: Fieschi 2003	12591909-17.II-1 asymptomatic brother with same mutations	M	no	France	-	-	-	-	-	IMD30	-	2	1	LOVD
00260966	-	PubMed: Fieschi 2003	-	F	no	France	-	-	-	-	-	IMD30	-	1	1	LOVD
00260967	-	PubMed: Fieschi 2003	12591909-21.II.1 asymptomatic sister with same mutation	F	no	Belgium	-	-	-	-	-	IMD30	-	1	1	LOVD
00260968	-	PubMed: de Beaucoudrey 2010	-	F	yes	United Kingdom (Great Britain)	-	-	-	-	-	IMD30	-	1	1	LOVD
00260969	-	PubMed: de Jong 1998	-	F	no	Netherlands	-	-	-	-	-	IMD30	-	1	1	Esther van de Vosse
00260970	-	PubMed: de Beaucoudrey 2010	-	M	no	Chile	-	-	-	-	-	IMD30	-	2	1	LOVD
00260971	-	PubMed: Strickler 2014 and personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	initially entered in the database as: Rockefeller -family 5	M	no	Chile	-	-	-	-	-	IMD30	BCG infection and CMC	1	1	LOVD
00260972	-	PubMed: Ramirez-Alejo 2013	also reported in: Ramirez-Alejo Immunology2011 P58.5	M	yes	Mexico	-	-	-	-	-	IMD30	-	1	1	LOVD
00260973	-	personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	-	F	?	Turkey	-	-	-	-	-	IMD30	BCG infection and Salmonella	1	2	LOVD
00260974	-	PubMed: Fieschi 2003	-	M	no	Brazil	-	-	-	-	-	IMD30	-	1	1	LOVD
00260975	-	PubMed: de Beaucoudrey 2010	-	M	yes	Saudi Arabia	-	-	-	-	-	IMD30	-	1	2	LOVD
00260976	-	PubMed: de Beaucoudrey 2010	-	F	yes	Saudi Arabia	-	-	-	-	-	IMD30	-	1	1	LOVD
00260977	-	PubMed: de Beaucoudrey 2010	-	M	yes	Saudi Arabia	-	-	-	-	-	IMD30	-	1	1	LOVD
00260978	-	PubMed: de Beaucoudrey 2010	-	?	yes	Saudi Arabia	-	-	-	-	-	IMD30	-	1	2	LOVD
00260979	-	personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	-	M	yes	-	-	-	-	-	-	IMD30	BCGosis	1	1	LOVD
00260980	-	PubMed: Schepers 2013	-	F	no	Belgium	-	-	-	-	-	IMD30	-	2	1	LOVD
00260981	-	PubMed: Luangwedchakarn 2009	Note: patient also has neurofibromatosis	M	no	Thailand	-	-	-	-	-	IMD30	-	1	1	LOVD
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	-	-	-	-	-	IMD30	-	1	2	Esther van de Vosse
00260983	-	PubMed: Fieschi 2003	-	F	no	Slovakia (Slovak Republic)	-	-	-	-	-	IMD30	-	2	1	LOVD
00260984	-	PubMed: Fieschi 2003	-	F	no	Slovakia (Slovak Republic)	-	-	-	-	-	IMD30	-	2	1	LOVD
00260985	-	PubMed: Alinejad Dizaj 2018	-	F	yes	Iran	-	-	-	-	-	IMD30	-	1	1	LOVD
00260986	-	PubMed: Boisson-Dupuis 2011	-	M	yes	Iran	-	-	-	-	-	IMD30	Tuberculosis	1	1	LOVD
00260987	-	PubMed: de Beaucoudrey 2010	-	F	no	Brazil	-	-	-	-	-	IMD30	-	2	1	LOVD
00260988	-	PubMed: de Beaucoudrey 2010	-	M	yes	Venezuela	-	-	-	-	-	IMD30	-	1	1	LOVD
00260989	-	PubMed: de Beaucoudrey 2010	-	F	no	Poland	-	-	-	-	-	IMD30	-	1	1	LOVD
00260990	-	PubMed: Alinejad Dizaj 2018	-	M	yes	Iran	-	-	-	-	-	IMD30	-	1	1	LOVD
00260991	-	PubMed: Aksu 2001	Note: one sister of the index pateint died at age 1	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00260992	-	PubMed: Fieschi 2003	-	-	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00260993	-	PubMed: Sanal 2006	-	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	Esther van de Vosse
00260994	-	PubMed: Kutukculer 2006	-	F	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00260995	-	PubMed: de Beaucoudrey 2008	-	M	-	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00260996	-	PubMed: van de Vosse 2010	-	F	yes	Netherlands	Turkey	-	-	-	-	IMD30	-	1	1	Esther van de Vosse
00260997	-	PubMed: Ozen 2006	-	F	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00260998	-	PubMed: de Beaucoudrey 2010	-	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	3	LOVD
00260999	-	personal communication Ozden Sanal	parents are form neighbouring small villages, therefore possibly distantly related/consanguineous ; ; data not published yet	-	?	Turkey	-	-	-	-	-	IMD30	M.bovis BCG infection	1	1	LOVD
00261000	-	PubMed: Tan 2016	-	M	yes	Turkey	-	-	-	-	-	IMD30	IMD30, IL12RB1 deficiency, MSMD	1	1	LOVD
00261001	-	PubMed: Tan 2016	-	M	yes	Turkey	-	-	-	-	-	IMD30	IMD30, IL12RB1 deficiency, MSMD	1	1	LOVD
00261002	-	PubMed: Tan 2016	-	F	yes	Turkey	-	-	-	-	-	IMD30	IMD30, IL12RB1 deficiency, MSMD	1	1	LOVD
00261003	-	PubMed: Fieschi 2003	1 family 2 patients; 12591909-26.II.1 deceased affected brother	F	yes	Bosnia and Herzegovina	-	-	-	-	-	IMD30	-	1	2	LOVD
00261004	-	PubMed: Elloumi-Zghal 2002	-	F	yes	Tunisia	-	-	-	-	-	IMD30	-	1	1	LOVD
00261005	-	PubMed: Fieschi 2003	-	F	yes	Qatar	-	-	-	-	-	IMD30	-	1	1	LOVD
00261006	-	PubMed: Fieschi 2003	1 family 2 patients; 12591909-12.II.4 affected sister	M	yes	Qatar	-	-	-	-	-	IMD30	-	1	2	LOVD
00261007	-	PubMed: Ehlayel 2008	patient also has a mutation in AT gene	F	yes	Qatar	Arab	-	-	-	-	IMD30	-	1	1	LOVD
00261008	-	PubMed: de Beaucoudrey 2010	family of 12.II.1 in {PMID 12591909: Fieschi 2003}	M	yes	Qatar	-	-	-	-	-	IMD30	disseminated BCG	1	1	LOVD
00261009	-	PubMed: de Beaucoudrey 2010	-	F	yes	Qatar	-	-	-	-	-	IMD30	-	1	1	LOVD
00261010	-	PubMed: Vinh 2011	1 family 2 patients; 21258095-P2 affected brother	F	yes	United States	Palestine	-	-	-	-	IMD30	-	1	2	LOVD
00261011	-	personal communication Ben Zion Garty	-	F	yes	Israel	Arab	-	-	-	-	IMD30	Salmonellosis	1	1	LOVD
00261012	-	personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	-	F	yes	Israel	-	-	-	-	-	IMD30	BCGitis and CMC	1	1	LOVD
00261013	-	PubMed: de Jong 1998	also reported in {PMID 12594833: Lichtenauer-Kaligis 2003}	F	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	Esther van de Vosse
00261014	-	PubMed: Fieschi 2003	-	F	yes	-	Turkey	-	-	-	-	IMD30	-	1	1	LOVD
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	-	-	-	-	-	IMD30	BCG infection	1	2	LOVD
00261016	-	PubMed: de Beaucoudrey 2010	-	M	yes	Iran	-	-	-	-	-	IMD30	-	1	2	LOVD
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	-	-	-	-	-	IMD30	-	1	1	LOVD
00261018	-	PubMed: de Beaucoudrey 2008	-	F	-	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261019	-	PubMed: de Beaucoudrey 2008	-	M	-	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261020	-	PubMed: de Beaucoudrey 2010	-	F	yes	Turkey	-	-	-	-	-	IMD30	-	1	2	LOVD
00261021	-	PubMed: Lichtenauer-Kaligis 2003	-	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	Esther van de Vosse
00261022	-	PubMed: Ramirez-Alejo 2013	-	F	no	Mexico	-	-	-	-	-	IMD30	-	1	1	LOVD
00261023	-	PubMed: Jinapongsananuruk 2012	-	M	no	Thailand	-	-	-	-	-	IMD30	-	2	1	LOVD
00261024	-	personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	-	F	no	Russian Federation	-	-	-	-	-	IMD30	-	2	1	LOVD
00261025	-	PubMed: Tanir 2006	-	M	-	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261026	-	PubMed: de Beaucoudrey 2010	1 family 2 patients +1 previous; this patient and #56 are family of 16501992-3;	M	?	Turkey	-	-	-	-	-	IMD30	-	1	2	LOVD
00261027	-	PubMed: Gokturk 2016	previously entered in this database as: Rockefeller -family 16 by personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	F	yes	Turkey	-	-	-	-	-	IMD30	Salmonellosis + CMC (+ probably mycobacterial lymphadenitis)	1	1	LOVD
00261028	-	PubMed: Lee 2009	-	M	no	Taiwan	-	-	-	-	-	IMD30	-	1	1	LOVD
00261029	-	PubMed: de Beaucoudrey 2010	-	M	no	China	-	-	-	-	-	IMD30	-	2	1	LOVD
00261030	-	PubMed: Sakai 2001	-	M	yes	Japan	-	-	-	-	-	IMD30	-	1	1	LOVD
00261031	-	PubMed: Altare 2001	-	M	yes	Morocco	-	-	-	-	-	IMD30	-	1	2	LOVD
00261032	-	personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis	-	M	?	Turkey	living in Belgium	-	-	-	-	IMD30	M.genavense infection	1	1	LOVD
00261033	-	PubMed: Ramirez-Alejo 2013	-	M	yes	Mexico	-	-	-	-	-	IMD30	-	1	1	LOVD
00261034	-	PubMed: Scheuerman 2007	-	M	yes	Israel	Bedouin Arab	-	-	-	-	IMD30	-	1	1	LOVD
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	-	-	-	-	IMD30	-	1	2	LOVD
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	-	-	-	-	IMD30	-	1	4	LOVD
00261037	-	PubMed: Tanir 2006	-	F	-	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261038	-	PubMed: Lichtenauer-Kaligis 2003	-	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	2	Esther van de Vosse
00261039	-	PubMed: Lichtenauer-Kaligis 2003	-	F	yes	Turkey	-	-	-	-	-	IMD30	-	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	-	-	-	-	IMD30	-	1	2	LOVD
00261041	-	PubMed: Pulickal 2008	1 family 2 patients; Note: sister died at age 4 of disseminated BCG infection, no genetic analysis	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	2	Esther van de Vosse
00261042	-	PubMed: Tanir 2006	-	M	-	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261043	-	PubMed: de Beaucoudrey 2010	-	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261044	-	PubMed: de Beaucoudrey 2010	-	F	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261045	-	PubMed: de Beaucoudrey 2010	-	M	yes	Turkey	-	-	-	-	-	IMD30	-	1	1	LOVD
00261046	-	PubMed: Filiz 2012	-	F	yes	Turkey	-	-	-	-	-	IMD30	Cutaneous Leukocytoclastic Vasculitis due to Salmonella enteritidis	1	1	LOVD
00261047	-	Zinovieva ESID2012 P605	1 family 2 patients or 2 families 1 patient; two sisters or two unrelated patients?	F	?	Russian Federation	-	-	-	-	-	IMD30	BCG and salmonellosis, recurrent vasculitis	1	2	LOVD

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Global Variome shared LOVD

IL12RB1 (interleukin 12 receptor, beta 1)