Disease #02236 (CGDX (granulomatous disease, chronic, X-linked), OMIM:306400)

Official abbreviation	CGDX
Name	granulomatous disease, chronic, X-linked
OMIM ID	306400
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	145
Phenotype entries for this disease	65
Associated with 1 gene	CYBB
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2022-07-29 11:34:06 +02:00 (CEST)

Individuals

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'

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145 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00034399	-	PubMed: Brown 1996	-	M	-	-	-	-	-	-	-	CGDX, MCLDS	-	DMD	DMD	1	1	Johan den Dunnen
00122125	08921393-PatBB	PubMed: Brown 1996	-	M	-	-	-	-	-	-	-	CGDX, DMD, MCLDS, retinal disease	dystrophy, muscular, Duchenne type (DMD), McLeod phenotype, chronic granulomatous disease; retinitis pigmentosa	DMD	DMD	1	1	Johan den Dunnen
00206729	patient	PubMed: Jirapongsananuruk 2002	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206730	-	-	-	M	-	-	-	-	-	-	-	CGDX	-	CYBB	-	-	1	SIB - Livia Famiglietti
00206731	A0133	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206735	-	-	-	M	-	-	-	-	-	-	-	CGDX	-	CYBB	-	-	1	SIB - Livia Famiglietti
00206736	A0175	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206740	PatEP	PubMed: Bolscher 1991	female carrier	F	-	Netherlands	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206741	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206742	PatRL	PubMed: Bolscher 1991	-	M	-	Netherlands	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206743	A0124	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206744	A0136	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206746	-	PubMed: Dusi 1998	-	M	-	-	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206747	PatVP2	PubMed: Roesler 1999	2-generation family, 1 affected, unaffected carrier mother	M	-	Germany	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206748	Pat3	PubMed: Hui 1996	-	M	-	Hong Kong	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206749	PatPB	PubMed: Bolscher 1991	-	M	-	Netherlands	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206751	A0125	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206752	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206753	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206754	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206755	PatCP1	PubMed: Roesler 1999	-	M	-	Germany	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206756	A0109	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206758	PatLMB	PubMed: Patino 1999	2-generation family, 1 affected, unaffected non-carrier mother	M	-	Colombia	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206760	A0171	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206761	PatLFG	PubMed: Patino 1999	2-generation family, 1 affected, unaffected carrier mother	M	-	Brazil	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206762	PatJL	PubMed: Bolscher 1991	-	M	-	Netherlands	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206763	FamPatJR	PubMed: Stasia 2002	3-generation family, affected cousins, unaffected carrier mother (sisters)	M	-	France	-	-	-	-	-	CGDX	-	CYBB	CYBB	2	2	SIB - Livia Famiglietti
00206764	FamPatVV	PubMed: Stasia 2002	cousin	M	-	France	-	-	-	-	-	CGDX	-	CYBB	CYBB	2	1	SIB - Livia Famiglietti
00206766	A101	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206769	patient	PubMed: Rae 1998	deceased	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206770	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206771	A0200	PubMed: Rae 1998	deceased	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206774	A0096	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	2	1	SIB - Livia Famiglietti
00206777	Pat1	PubMed: Hui 1996	2-generation family, 1 affected, unaffected carrier mother	M	-	Hong Kong	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206780	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206784	PatFB	PubMed: Bolscher 1991	-	M	-	Netherlands	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206785	A0142	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206786	A0157	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206787	FamK	PubMed: Bakri 2009	4-generation family, 1 affected, unaffected carrier mother	M	yes	Jordan	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206788	A0190	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206789	A0107	PubMed: Dinauer 1989	family X+ CGD, several affected	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206790	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206791	A0112	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206794	patient	PubMed: Rae 1998	deceased	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206795	patient	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206796	PatC	PubMed: Boog 2012	2-generation family, 1 affected, unaffected carrier mother	M	-	Australia	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	LOVD
00206797	PatDS	PubMed: Leusen 1994	2-generation family, 1 affected, unaffected carrier mother	M	-	Netherlands	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206798	FamPatA	PubMed: Boog 2012	2-generation family, 2 affected brothers, unaffected carrier mother	M	-	Australia	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	2	LOVD
00206799	FamPatB	PubMed: Boog 2012	brother	M	-	Australia	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	LOVD
00206803	A0094	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206805	A0147	PubMed: Rae 1998	deceased	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206806	patient	PubMed: Jirapongsananuruk 2002	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206807	A0199	PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00206808	PatVP1	PubMed: Roesler 1999	2-generation family, 1 affected	M	-	Germany	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	SIB - Livia Famiglietti
00431425	Pat1/A0132	PubMed: Newburger 1994	-	F	-	United States	-	-	-	-	-	CGDX	see paper; 16y-26y hospitalized 10 times for pneumonia, abdominal/liver abscesses (Serratia marcescens, Staphylococcus aureus), prolonged fevers of unknown etiology; 40y-good health	CYBB	CYBB	1	1	Johan den Dunnen
00431429	PatJW;A0203	PubMed: Royer-Pokor 1986, PubMed: Rae 1998	-	M	-	United States	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431531	Pat1(A1472)	PubMed: Arai 2012	2-generation family, 1 affected, heterozygous carrier mother	M	-	Japan	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431532	Pat2(A1471)	PubMed: Arai 2012	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	Japan	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431540	Pat3	PubMed: Arai 2012	2-generation family, 1 affected, heterozygous carrier mother	M	-	Japan	-	-	-	-	-	CGDX	-	CYBB, XK	CYBB, XK	1	1	Johan den Dunnen
00431543	Pat4	PubMed: Arai 2012	family, 1 affected	M	-	Japan	-	-	-	-	-	CGDX	-	CYBB, XK	CYBB, XK	1	1	Johan den Dunnen
00431544	Pat5(A1445)	PubMed: Arai 2012	2-generation family, 1 affected, heterozygous carrier mother	M	-	Japan	-	-	-	-	-	CGDX	-	CYBB, DMD, XK	CYBB, DMD, XK	1	1	Johan den Dunnen
00431550	Pat2	PubMed: Yamada 2010	2-generation family, 2 affected brothers, unaffected carrier mother	M	-	Japan	-	-	-	-	-	CGDX	recurrent perianal abscesses and pneumonia, chronic granulomatous disease; brother died from Pseudomonas aeruginosa septicemia	-	CYBB, XK	1	2	Johan den Dunnen
00431553	Pat1	PubMed: Stasia 2012	2-generation family, 1 affected, unaffected non-carrier mother	M	-	France	-	-	-	-	-	CGDX	see paper; ..., 21m-osteomyelitis, chronic granulomatous disease; treated with treatment with sulfamethoxazole/trimethoprim and itraconazole, 9y-one episode of cervicolymphadenitis; recurrent episodes of vesicular stomatitis (no herpes simplex virus; cognitive delay, speech retardation, not acquired reading/writing skills; MRI brain normal	CYBB	CYBB	1	1	Johan den Dunnen
00431554	Pat2	PubMed: Stasia 2012	2-generation family, 1 affected, unaffected carrier mother	M	-	France	-	-	-	-	-	CGDX	see paper; ..., 1y-splenomegaly, mild thrombocytopenia; significant infections, including Aspergillus lung infections requiring prolonged amphotericin use, Nocardia pneumonia (linezolid treated); several pneumonias; photophobia, vasculitic rash to all azoles	CYBB	CYBB	1	1	Johan den Dunnen
00431555	patient	PubMed: De Boer 2014	2-generation family, 1 affected, unaffected carrier mother	M	-	Netherlands	-	-	-	-	-	CGDX	see paper; ..., 2y-intra-abdominal abscess due to Staphylococcus aureus; 5y-life-threatening invasive pulmonary aspergillosis; 8y-milder episode invasive pulmonary aspergillosis; 11y- invasive pulmonary aspergillosis; 16y-cervical lymphadenitis; 20y-perianal abscess	CYBB	CYBB	1	1	Johan den Dunnen
00431571	patient(A2996)	PubMed: Moreau 2013	-	M	-	United States	-	-	-	-	-	CGDX	see paper; ..., 2y-ascites, fever	CYBB	CYBB	1	1	Johan den Dunnen
00431572	A2997/A2998	PubMed: Roos 2021	family, 2 affected	-	-	-	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	2	Johan den Dunnen
00431632	Pat1;Pat30(A2875)	PubMed: Vignesh 2021, PubMed: Rawat 2021	-	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431633	FamPat2;Pat5	PubMed: Vignesh 2021, PubMed: Rawat 2021	4-generation family, 12 affected (12M)	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	12	Johan den Dunnen
00431634	Pat3;Pat9(A2985)	PubMed: Vignesh 2021, PubMed: Rawat 2021	-	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431635	Pat4;Pat10	PubMed: Vignesh 2021, PubMed: Rawat 2021	-	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431639	Pat1	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431640	Pat2	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431641	Pat3(A2891)	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431642	Pat4	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431643	Pat6	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431644	Pat7	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431645	Pat8	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431646	Pat11	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431647	Pat12(A2927)	PubMed: Kulkarni 2018, PubMed: Rawat 2021	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431648	Pat13	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431649	Pat14	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431650	Pat15	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431651	Pat16(A1595)	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431652	Pat17	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431653	Pat18	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431654	Pat19	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431655	Pat20(A1667)	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431656	Pat21	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431657	Pat22	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431658	Pat23	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431659	Pat24(A2973)	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431660	Pat25	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431661	Pat26	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431662	Pat27	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431663	Pat28	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431664	Pat29	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431665	Pat31	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431666	Pat32(A2971)	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen
00431667	Pat33	PubMed: Rawat 2021	patient	M	-	India	-	-	-	-	-	CGDX	-	CYBB	CYBB	1	1	Johan den Dunnen

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Global Variome shared LOVD

MICU1 (mitochondrial calcium uptake 1)