All individuals with variants in gene STAT1

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.

122 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
00080572	-	{PMID 11452125:Dupuis 2001}	autosomal dominant, partial STAT1 defectalso son reported later as asymptomatic: 16934001-Pat_C.III.2	F	-	France	-	-	-	-	-	IMD31A	mycobacteriosis	1	1	Johan den Dunnen
00080573	-	{PMID 11452125:Dupuis 2001}	family, 1 affected	F	-	United States	-	-	-	-	-	IMD31A	mycobacteriosis	1	1	Johan den Dunnen
00080574	-	PubMed: Dupuis 2003	family, 1 affected	F	-	Saudi Arabia	-	-	-	-	-	IMD31B	mycobacteriosis & viral infections	1	1	Esther van de Vosse
00080575	-	PubMed: Dupuis 2003	family, 1 affected	F	-	Saudi Arabia	-	-	-	-	-	IMD31B	mycobacteriosis & viral infection	1	1	Esther van de Vosse
00080576	-	PubMed: Chapgier 2006a	family, 1 affected	M	yes	Pakistan	-	-	-	-	-	IMD31B	mycobacteriosis & viral infection	1	1	Esther van de Vosse
00080577	-	{PMID16934001:Chapgier 2006b}	family, 3 affecteds	F	-	Germany	-	-	-	-	-	IMD31A	mycobacteriosis	1	3	Johan den Dunnen
00080578	-	PubMed: Chapgier 2006b	family, 1 affected, 2 asymptomatic	M	no	Germany	-	-	-	-	-	IMD31A	mycobacteriosis	1	1	Johan den Dunnen
00080579	-	PubMed: Chapgier 2009	family, 2 affecteds	M	yes	Israel	-	-	-	-	-	IMD31B	mycobacteriosis & viral infection	1	2	Esther van de Vosse
00080580	-	PubMed: van de Veerdonk 2011	family, 4 affecteds; one family member later reported: 22195034_Fam1P4	M	-	Netherlands	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	4	Johan den Dunnen
00080581	-	PubMed: van de Veerdonk 2011	family, 5 affecteds	F	-	United Kingdom (Great Britain)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	5	Johan den Dunnen
00080582	-	PubMed: van de Veerdonk 2011	family, 3 affecteds	M	-	United Kingdom (Great Britain)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	3	Johan den Dunnen
00080583	-	{PMID21714643:van de Veerdonk 2011} (PMID26255980:Zheng 2015}	family, 3 affecteds; 2 more patients from this family in Zheng et al 2015	F	-	United Kingdom (Great Britain)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	3	Johan den Dunnen
00080584	-	PubMed: van de Veerdonk 2011	family, 2 affecteds	F	-	Netherlands	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080585	-	PubMed: Kong 2010	family, 2 affecteds	M	-	Saudi Arabia	-	-	-	-	-	IMD31B	mycobacteriosis & viral infections	1	2	Esther van de Vosse
00080586	-	{PMID21057861:Kristensen 2011}	family, 1 affected	F	-	(Denmark)	-	-	-	-	-	IMD31B	mycobacteriosis	2	1	Johan den Dunnen
00080587	-	PubMed: Liu 2011	family, 2 affecteds, 1 no genetics	-	-	Israel	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080588	-	PubMed: Liu 2011	family, 6 affecteds, 4 no genetics	-	-	France	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080589	-	PubMed: Liu 2011	family, 2 affecteds	-	-	Turkey	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080590	-	PubMed: Liu 2011	family, 2 affecteds	-	-	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080591	-	PubMed: Liu 2011	family, 2 affecteds	-	-	France	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080592	-	PubMed: Liu 2011	family, 4 affecteds, 2 no genetics	-	-	France	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080593	-	PubMed: Liu 2011	family with 3 members affected, 1 no genetics	-	-	France	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080594	-	PubMed: Liu 2011	family, 1 affected, 1 no genetics	M	-	France	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080595	-	PubMed: Liu 2011	family with 7 members affected, 1 no genetics	-	-	Germany	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	6	Johan den Dunnen
00080596	-	PubMed: Liu 2011	family, 3 affecteds	-	-	Argentina	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	3	Johan den Dunnen
00080597	-	PubMed: Liu 2011	family, 1 affected	F	-	Germany	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080598	-	PubMed: Liu 2011	family, 1 affected	F	-	France	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080599	-	PubMed: Liu 2011, PubMed: Soltesz 2013	family, 1 affected	M	-	Ukraine	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080600	-	PubMed: Liu 2011	family, 1 affected	F	-	Mexico	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080601	-	PubMed: Liu 2011	family, 2 affecteds	-	-	Switzerland	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080602	-	PubMed: Liu 2011	family, 1 affected	M	-	Switzerland	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080603	-	PubMed: Liu 2011	family, 1 affected	F	-	Germany	-	-	-	-	-	IMD31C;CANDF7	Chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080604	-	PubMed: Liu 2011	family, 1 affected	M	-	Germany	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080605	-	PubMed: Liu 2011	family, 3 affecteds, 1 no genetics	-	-	France	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Johan den Dunnen
00080606	-	PubMed: Liu 2011	family, 1 affected	F	-	Germany	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Johan den Dunnen
00080607	-	PubMed: Smeekens 2011	family, 3 affecteds	F	no	United Kingdom (Great Britain)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	3	Esther van de Vosse
00080608	-	PubMed: Smeekens 2011	family, 3 affecteds	F	no	United Kingdom (Great Britain)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	3	Esther van de Vosse
00080609	-	PubMed: Vairo 2011	family, 1 affected	M	yes	Pakistan	-	-	-	-	-	IMD31B	Mycobacteriosis, viral infection & Aspergillus fumigatus	1	1	Esther van de Vosse
00080610	-	PubMed: Takezaki 2012	family, 1 affected	M	no	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080611	-	PubMed: Takezaki 2012	family, 1 affected	M	no	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080612	-	PubMed: de Jong 1998	family, 2 affected, 1 asymptomatic	M	no	Japan	-	-	-	-	-	IMD31A	mycobacteriosis	1	2	Esther van de Vosse
00080613	-	PubMed: Tsumura 2012	family, 1 affected	F	yes	Saudi Arabia	-	-	-	-	-	IMD31A	mycobacteriosis	1	1	Esther van de Vosse
00080614	-	PubMed: Sampaio 2012	family, 1 affected	M	no	(United States)	-	-	-	-	-	IMD31A	mycobacteriosis	1	1	Esther van de Vosse
00080615	-	PubMed: Hori 2012	family, 2 affecteds	F	?	(Japan)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Esther van de Vosse
00080616	-	PubMed: Averbuch 2011, PubMed: Shamriz 2013	family, 2 affecteds	M	yes	Israel	islamic	-	-	-	-	IMD31B	mycobacteriosis & viral infections & more	1	2	Esther van de Vosse
00080617	-	PubMed: Hirata 2013	family, 2 affecteds	M	no	Japan	-	-	-	-	-	IMD31A	mycobacteriosis	1	2	Esther van de Vosse
00080618	-	PubMed: Wang 2012	family, 1 affected	F	no	China	Han Chinese	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080619	-	PubMed: Sampaio 2013	family, 1 affected	F	?	United States	Hispanic	-	-	-	-	?	IMD-31C like; chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080620	-	PubMed: Sampaio 2013	family, 1 affected	F	?	United States	white	-	-	-	-	?	IMD-31C like; chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080621	-	PubMed: Sampaio 2013	family, 1 affected	M	?	(United States)	white	-	-	-	-	?	IMD-31C like; chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080622	-	PubMed: Sampaio 2013	family, 1 affected	M	?	(United States)	-	-	-	-	-	?	IMD-31C like; chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080623	-	PubMed: Sampaio 2013	family, 1 affected	F	no	(United States)	-	-	-	-	-	?	IMD-31C like; chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080624	-	PubMed: Al Rushood 2013	family, 3 affecteds	M	?	(Canada)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	3	Esther van de Vosse
00080625	-	PubMed: Aldave 2013	family, 1 affected	F	no	Peru	Mestizo	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080626	-	PubMed: Soltesz 2013	family, 1 affected	F	?	Czech Republic	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080627	-	PubMed: Soltesz 2013	family, 2 affecteds	F	?	Czech Republic	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Esther van de Vosse
00080628	-	PubMed: Liu 2011, PubMed: Soltesz 2013	family, 2 affecteds	F	?	Hungary	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)also: herpes	1	2	Esther van de Vosse
00080629	-	PubMed: Soltesz 2013	family, 1 affected	F	?	Russian Federation	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080630	-	PubMed: Soltesz 2013	family, 1 affected	F	?	Russian Federation	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080631	-	PubMed: Soltesz 2013	family, 1 affected	M	?	Ukraine	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080632	-	PubMed: Sharfe 2014	autosomal dominant or haploinsufficiency? STAT1 defect	M	no	(Canada)	English	-	-	-	-	?	IMD-31C?; chronic mucocutaneous candidiasis (CMC), also bacterial infections	1	1	Esther van de Vosse
00080633	-	PubMed: Sharfe 2014	autosomal dominant or haploinsufficiency? STAT1 defect	F	no	(Canada)	English descent	-	-	-	-	?	IMD-31C like; chronic mucocutaneous candidiasis (CMC), also viral and bacterial infections	1	1	Esther van de Vosse
00080634	-	PubMed: Sharfe 2014	autosomal dominant or haploinsufficiency? STAT1 defect	M	no	(Canada)	English descent	-	-	-	-	?	IMD-31C?; various viral and bacterial infections	1	1	Esther van de Vosse
00080635	-	PubMed: Sharfe 2014	autosomal dominant or haploinsufficiency? STAT1 defect	F	no	(Canada)	Iranian descent	-	-	-	-	?	IMD-31A?; mycobacteriosis, other bacterial and viral infections	1	1	Esther van de Vosse
00080636	-	PubMed: Sharfe 2014	autosomal dominant or haploinsufficiency? STAT1 defect	M	no	(Canada)	-	-	-	-	-	?	IMD-31A?; fevers, skin boils, diarrhea, autoimmmune	1	1	Esther van de Vosse
00080637	-	PubMed: Romberg 2013	family, 4 affecteds	F	no	United States	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	4	Esther van de Vosse
00080638	-	PubMed: Kumar 2014	family, 1 affected	M	no	(United States)	mixed Asian/African	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080639	-	PubMed: Tanimura 2015	family, 1 affected	M	?	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) and aortic aneurysms	1	1	Esther van de Vosse
00080640	-	PubMed: Kataoka 2015	family, 2 affecteds	M	no	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC), severe Tuberculosis	1	2	Esther van de Vosse
00080641	-	PubMed: Zheng 2015	family, 1 affected	M	?	United Kingdom (Great Britain)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080642	-	PubMed: Zheng 2015	family, 1 affected	M	?	Netherlands	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080643	-	PubMed: Giardino 2016	family, 1 affected	M	no	Italy	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080644	-	PubMed: Martinez-Martinez 2015	family, 3 affecteds	M	?	Spain	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	3	Esther van de Vosse
00080645	-	PubMed: Nielsen 2015	family, 1 affected	F	?	Denmark	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080646	-	PubMed: Zerbe 2016	family, 1 affected	F	?	United States	African American	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML)	1	1	Esther van de Vosse
00080647	-	PubMed: Zerbe 2016	family, 1 affected	M	?	United States	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML)	1	1	Esther van de Vosse
00080648	-	PubMed: Zerbe 2016	family, 1 affected	M	?	United States	Hispanic	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML)	1	1	Esther van de Vosse
00080649	-	PubMed: Dhalla 2015	family, 5 affecteds	F	?	United Kingdom (Great Britain)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	5	Esther van de Vosse
00080650	-	PubMed: Kilic 2014	family, 2 affecteds	M	no	Turkey	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & viral infection	1	2	Esther van de Vosse
00080651	-	PubMed: Yamazaki 2014	family, 1 affected	F	no	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080652	-	PubMed: Yamazaki 2014	family, 2 affecteds	F	?	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Esther van de Vosse
00080653	-	PubMed: Mizoguchi 2014	family, 2 affecteds	M	?	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Esther van de Vosse
00080654	-	PubMed: Mizoguchi 2014	family, 1 affected	M	?	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080655	-	PubMed: Mizoguchi 2014	family, 2 affecteds	M	?	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Esther van de Vosse
00080656	-	PubMed: Mizoguchi 2014	family, 2 affecteds	F	?	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	2	Esther van de Vosse
00080657	-	PubMed: Mizoguchi 2014	family, 1 affected	M	?	Japan	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080658	-	PubMed: Uzel 2013	family, 1 affected	M	?	United States	Hispanic	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)& IPEX-like features	1	1	Esther van de Vosse
00080659	-	PubMed: Uzel 2013	family, 1 affected	M	?	United States	white	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & IPEX-like features	1	1	Esther van de Vosse
00080660	-	PubMed: Uzel 2013	family, 1 affected	F	?	(United States)	Korean	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & IPEX-like features	1	1	Esther van de Vosse
00080661	-	PubMed: Uzel 2013	family, 1 affected	M	?	United States	white	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & IPEX-like features	1	1	Esther van de Vosse
00080662	-	PubMed: Uzel 2013	family, 1 affected	M	?	United States	white	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC) & IPEX-like features	1	1	Esther van de Vosse
00080663	-	PubMed: Mekki 2014	family, 1 affected	F	yes	Tunisia	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse
00080664	-	PubMed: Sobh 2016	family, 1 affected	F	no	(United States)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis (CMC)	1	1	Esther van de Vosse
00080665	-	PubMed: Lee 2014	family, 1 affected	M	?	China	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse
00080666	-	PubMed: Lee 2014	family, 1 affected	F	?	China	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse
00080667	-	PubMed: Lee 2014	family, 1 affected	F	?	China	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse
00080668	-	PubMed: Frans 2014	family, 1 affected	M	no	Belgium	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse
00080669	-	PubMed: Wildbaum 2013	family, 1 affected	F	?	Israel	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse
00080670	-	PubMed: Mossner 2016	family, 1 affected	M	?	(Germany)	Tunisian-German	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse
00080671	-	PubMed: Higgins 2015	family, 1 affected	F	?	(Ireland)	-	-	-	-	-	IMD31C;CANDF7	chronic mucocutaneous candidiasis	1	1	Esther van de Vosse

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Global Variome shared LOVD

STAT1 (signal transducer and activator of transcrip...)