Publications:

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.

Frontiers In Immunology

Bakri, Faris Ghalib FG; Mollin, Michelle M; Beaumel, Sylvain S; Vigne, Bénédicte B; Roux-Buisson, Nathalie N; Al-Wahadneh, Adel Mohammed AM; Alzyoud, Raed Mohammed RM; Hayajneh, Wail Ahmad WA; Daoud, Ammar Khaled AK; Shukair, Mohammed Elian Abu MEA; Karadshe, Mansour Fuad MF; Sarhan, Mahmoud Mohammad MM; Al-Ramahi, Jamal Ahmad Wadi JAW; Fauré, Julien J; Rendu, John J; Stasia, Marie Jose MJ

Publication Date: 2021

Variant appearance in text: CGD: 252G>T

PubMed Link: 33746979

Variant Present in the following documents:

• Main text
• fimmu-12-639226.pdf

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Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease.

Case Reports In Pediatrics

Gutierrez, Maria J MJ; McSherry, George D GD; Ishmael, Faoud T FT; Horwitz, Alexandra A AA; Nino, Gustavo G

Publication Date: 2012

Variant appearance in text: CYBB: Ala84Ala

PubMed Link: 23193493

Variant Present in the following documents:

• Main text

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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI

Publication Date: 2010-10-15

Variant appearance in text: CGD: 252G>T

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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