All individuals with variants in gene IFNGR1

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.

118 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	-	290	1	LOVD
00260659	-	PubMed: Jouanguy 1999	1 family, 3 patients	F	no	Ireland	-	-	-	-	-	IMD27B	-	1	3	LOVD
00260660	-	PubMed: Jouanguy 1999	1 family, 2 patients	F	no	Ireland	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260661	-	PubMed: Jouanguy 1999 PubMed: Roesler 2011	1 family, 3 patients; 2 patients, 2 asymptomatics in this family; in later publication one of the asymptomatics developed VZV meningoencephalitis (see Roesler et al 2011)	F	no	Germany	-	-	-	-	-	IMD27B	-	1	3	LOVD
00260662	-	PubMed: Jouanguy 1999	-	F	no	Italy	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260663	-	PubMed: Jouanguy 1999	-	F	no	Morocco	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260664	-	PubMed: Jouanguy 1999	-	M	no	Sweden	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260665	-	PubMed: Jouanguy 1999	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260666	-	PubMed: Jouanguy 1999	-	F	no	United States	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260667	-	PubMed: Jouanguy 1999 PubMed: Zerbe 2005	-	M	no	United States	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260668	-	PubMed: Jouanguy 1999	-	M	no	United States	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260669	-	PubMed: Jouanguy 1999	-	M	no	United States	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260670	-	PubMed: Jouanguy 1999	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260671	-	PubMed: Dorman 2000	-	-	no	-	Korean/African	-	-	-	-	IMD27B	-	1	1	LOVD
00260672	-	PubMed: Arend 2001	1 family, 2 patients	F	?	Netherlands	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260673	-	PubMed: Arend 2001	1 family, 4 patients	M	no	Netherlands	-	-	-	-	-	IMD27B	-	1	4	LOVD
00260674	-	PubMed: Arend 2001	1 family 3 patients; in the publication: 2 patients+1 asymptomatic sibling. this sibling has since developed disease as well	F	no	Netherlands	-	-	-	-	-	IMD27B	-	1	3	LOVD
00260675	-	PubMed: Villella 2001	-	F	?	United States	white	-	-	-	-	IMD27B	-	1	1	LOVD
00260676	-	PubMed: Edgar 2001	1 family, 2 patients	F	?	(United Kingdom (Great Britain))	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260677	-	PubMed: Edgar 2001	-	F	?	(United Kingdom (Great Britain))	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260678	-	PubMed: Sasaki 2002	-	F	?	Japan	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260679	-	PubMed: Sasaki 2002	1 family, 2 patients	M	?	Japan	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260680	-	PubMed: Sasaki 2002	-	M	?	Japan	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260681	-	PubMed: Waibel 2002	1 family, 2 patients	F	?	(United States)	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260682	-	PubMed: Dorman 2004	1 family, 2 patients	M	?	United States	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260683	-	PubMed: Dorman 2004	-	M	?	United States	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260684	-	PubMed: Dorman 2004	1 family, 2 patients	M	?	United States	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260685	-	PubMed: Dorman 2004	-	M	?	India	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260686	-	PubMed: Dorman 2004	-	F	?	France	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260687	-	PubMed: Dorman 2004	1 family, 2 patients	F	?	Germany	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260688	-	PubMed: Storgaard 2006 PubMed: Bang 2008	1 family, 2 patients; mutation appeared de novo in father, and then inherited by daughter	M	?	(Denmark)	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260689	-	PubMed: Okada 2007	-	F	?	Japan	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260690	-	PubMed: Han 2004	1 family, 2 patients+1 deceased sib	M	?	(United States)	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260691	-	PubMed: Glosli 2008	1 family, 4 patients+1 asymptomatic	F	no	Norway	-	-	-	-	-	IMD27B	-	1	4	LOVD
00260692	-	PubMed: Lee 2008	1 family, 2 patients	M	?	Taiwan	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260693	-	PubMed: Lee 2008	-	F	?	Taiwan	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260694	-	PubMed: Vinh 2009	-	M	?	United States	white	-	-	-	-	IMD27B	-	1	1	LOVD
00260695	-	PubMed: Auld 2011	1 family, 2 patients	F	?	Australia	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260696	-	PubMed: Muszlak 2007	-	F	no	Comoros	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260697	-	PubMed: Obinata 2012	-	M	no	Japan	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260698	-	PubMed: Obinata 2012	-	F	no	Japan	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260699	-	PubMed: Rose 2014	-	M	?	United States	white	-	-	-	-	IMD27B	-	1	1	LOVD
00260700	-	PubMed: Takeda 2014	1 family, 2 patients	F	no	Japan	-	-	-	-	-	IMD27B	-	1	2	LOVD
00260701	-	PubMed: Quispel 2014	-	M	no	Netherlands	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260702	-	PubMed: Sharma 2015	-	M	?	India	India (living in Singapore)	-	-	-	-	IMD27B	-	1	1	LOVD
00260703	-	PubMed: Antonietti 2015	-	F	no	(France)	Chechnya	-	-	-	-	IMD27B	-	1	1	LOVD
00260704	-	Journal: Pac 2012	-	F	no	Poland	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260705	Pat6	PubMed: Hoshina 2011	-	M	?	Japan	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260706	-	PubMed: Wang 2012	1 family, 3 patients	M	no	Taiwan	-	-	-	-	-	IMD27B	-	1	3	LOVD
00260707	-	personal communication	allele identified heterozygously in exome sequencing	M	no	Netherlands	-	-	-	-	-	?	unrelated to mutation; unknown, allele not detected homozygously yet	1	1	LOVD
00260708	-	E. van de Vosse -unpublished data	-	F	?	Germany	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260709	-	E. van de Vosse -unpublished data	-	M	no	Germany	-	-	-	-	-	IMD27B	-	1	1	LOVD
00260710	-	PubMed: de Vor 2016	1 family, 3 patients	F	yes	Netherlands	Turkey	-	-	-	-	IMD27A	MSMD	1	3	LOVD
00260711	-	PubMed: Kong 2010	-	F	yes	Finland	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260712	-	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	LOVD
00260713	-	PubMed: Holland 1998 PubMed: Bax 2013	1 family, 1 patients +1 deceased sib	M	yes	(Norway)	Pakistan: Punjab region	-	-	-	-	IMD27A	B cell lymphoma	1	1	LOVD
00260714	-	PubMed: Altare 1998 PubMed: Pierre-Audigier 1997	1 family, 1 patients+3 deceased sibs	F	no	Italy	-	-	-	-	-	IMD27A	-	2	1	LOVD
00260715	-	PubMed: Dorman 2004	1 family, 2 patients	M	?	Turkey	-	-	-	-	-	IMD27A	-	1	2	LOVD
00260716	-	PubMed: Edeer Karaca 2012	-	M	yes	Turkey	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260717	-	PubMed: Dorman 2004	1 family, 2 patients	M	?	Greece	-	-	-	-	-	IMD27A	-	2	2	LOVD
00260718	-	E. van de Vosse -unpublished data	-	M	no	Germany	-	-	-	-	-	IMD27A	-	2	1	LOVD
00260719	-	PubMed: Wang 2014	-	F	yes	China	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260720	-	PubMed: Jouanguy 1996	-	F	yes	Tunisia	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260721	-	PubMed: Cunningham 2000	father was not available, so child can be homozygous or have a deletion on the other allele	M	no	Canada	aboriginal	-	-	-	-	IMD27A	-	1	1	LOVD
00260722	-	PubMed: Dorman 2004	-	M	?	United States	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260723	-	PubMed: Jouanguy 2000	-	F	no	(France)	French/Portuguese	-	-	-	-	IMD27A	-	2	1	LOVD
00260724	-	PubMed: Allende 2001	-	F	yes	Spain	Spain	-	-	-	-	IMD27A	-	1	1	LOVD
00260725	-	PubMed: Sologuren 2011	1 family, 2 patients	M	no	Spain	-	-	-	-	-	IMD27A	-	1	2	LOVD
00260726	-	PubMed: Sologuren 2011	-	F	no	Spain	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260727	-	PubMed: Sologuren 2011	-	M	no	Spain	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260728	-	PubMed: Sologuren 2011	-	M	no	Spain	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260729	-	PubMed: Holland 1998 PubMed: Dorman 1999	-	M	-	(United States)	Pakistan (original: Punjab, India)	-	-	-	-	IMD27A	-	1	1	LOVD
00260730	-	PubMed: Jouanguy 2000 PubMed: Camcioglu 2004	1 family, 2 patients	F	yes	Turkey	-	-	-	-	-	IMD27A	-	1	2	LOVD
00260731	-	PubMed: Chantrain 2006	-	M	yes	(Belgium)	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260732	-	PubMed: Noordzij 2007	1 family, 1 patients+3deceased sibs; 2 sibs died after BCG vaccination; 1 after diarrhea (due to Salmonella?)	F	yes	(Netherlands)	Pakistan	-	-	-	-	IMD27A	-	1	1	LOVD
00260733	-	PubMed: Jouanguy 1997 and PubMed: Sologuren 2011	1 family, 2 patients; 9389728-P1 and P2 first reported in Jouanguy et al 1997 and also reported as 21266457-X.1 and X.2 in Sologuren et al 2011	M	yes	Portugal	-	-	-	-	-	IMD27A	-	1	2	LOVD
00260734	-	PubMed: Remiszewski 2006 and PubMed: Sologuren 2011	This patient first reported by Remiszewski et al 2006 and also reported by Sologuren et al 2011 as patient XI.1	F	no	Poland	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260735	-	PubMed: Sologuren 2011	-	M	yes	Chile	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260736	-	PubMed: Sologuren 2011	-	F	yes	Portugal	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260737	-	PubMed: Sologuren 2011	-	M	no	Chile	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260738	-	PubMed: Sologuren 2011	-	F	no	Chile	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260739	-	PubMed: Sologuren 2011 PubMed: Bernatowska 2007	1 family, 2 patients	M	yes	Portugal	Azores	-	-	-	-	IMD27A	-	1	2	LOVD
00260740	-	PubMed: Jouanguy 2000	-	F	yes	Algeria	-	-	-	-	-	IMD27A	living in France	1	1	LOVD
00260741	-	PubMed: Prando 2010	-	M	no	Italy	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260742	-	PubMed: Newport 1996	1 family, 3 patients	M	yes	Malta	-	-	-	-	-	IMD27A	-	1	3	LOVD
00260743	-	PubMed: Newport 1996	-	F	yes	Malta	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260744	-	PubMed: Roesler 1999	-	F	no	Germany	-	-	-	-	-	IMD27A	-	2	1	LOVD
00260745	-	PubMed: Noordzij 2007	B cell lymphoma described in {PMID23800860:Bax 2013}	M	no	Netherlands	-	-	-	-	-	IMD27A	NTM infections and B cell lymphoma	1	1	LOVD
00260746	-	PubMed: Hartwig 2011	-	M	no	Netherlands	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260747	-	van de Vosse, personal communication	-	F	?	Viet Nam	Viet Nam	-	-	-	-	IMD28	-	1	1	LOVD
00260748	-	PubMed: Tsolia 2006	-	M	yes	Greece	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260749	-	PubMed: Koscielniak 2003	-	M	no	Italy	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260750	-	PubMed: Dorman 2004	-	M	?	Greece	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260751	-	PubMed: Marazzi 2009	-	M	?	Italy	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260752	-	PubMed: Taramasso 2014	-	M	?	(Italy)	-	-	-	-	-	IMD27A	M.scrofulaceum multifocal osteomyelitis. intracranial tumour (pineal germinoma)	1	1	LOVD
00260753	-	PubMed: Olbrich 2015 PubMed: Olbrich 2016	-	M	no	(Spain)	-	-	-	-	-	IMD27A	Salmonella gastroenteritis; disseminated M.fortuitum, Influenza A	2	1	LOVD
00260754	-	PubMed: Dorman 2000	-	-	-	Argentina	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260755	-	PubMed: Rosenzweig 2002	-	F	no	Argentina	-	-	-	-	-	IMD27A	-	1	1	LOVD
00260756	-	PubMed: Kong 2013	-	F	yes	Morocco	-	-	-	-	-	SPG	The M.bovis BCG lymphadenitis is unlikely to be due to the variant identified in IFNGR1	1	2	LOVD
00260757	-	PubMed: Tesi 2015	-	F	no	China	Chinese (living in Italy)	4y	-	-	-	IMD27A	EBV and disseminated M.tuberculosis	1	1	LOVD

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Global Variome shared LOVD

IFNGR1 (interferon gamma receptor 1)