Works matching IS 02719142 AND DT 2015 AND VI 35 AND IP 5

Results: 12

Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 512, doi. 10.1007/s10875-015-0165-1

By:

Hirata, Osamu;
Okada, Satoshi;
Tsumura, Miyuki;
Karakawa, Shuhei;
Matsumura, Itaru;
Kimura, Yujiro;
Maihara, Toshiro;
Yasunaga, Shin'ichiro;
Takihara, Yoshihiro;
Ohara, Osamu;
Kobayashi, Masao

Publication type:

Article

Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 439, doi. 10.1007/s10875-015-0166-0

By:

Dziadzio, Magdalena;
Ammann, Sandra;
Canning, Claire;
Boyle, Fiona;
Hassan, Amel;
Cale, Cathy;
Elawad, Mamoun;
Fiil, Berthe;
Gyrd-Hansen, Mads;
Salzer, Ulrich;
Speckmann, Carsten;
Grimbacher, Bodo

Publication type:

Article

Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 479, doi. 10.1007/s10875-015-0167-z

By:

Patel, N.;
Gallagher, J.;
Torgerson, T.;
Gilman, A.

Publication type:

Article

Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1).

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 445, doi. 10.1007/s10875-015-0168-y

By:

Cohen, Jeffrey;
Niemela, Julie;
Stoddard, Jennifer;
Pittaluga, Stefania;
Heslop, Helen;
Jaffe, Elaine;
Dowdell, Kennichi

Publication type:

Article

A Novel Pathogenic Variant in PRF1 Associated with Hemophagocytic Lymphohistiocytosis.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 501, doi. 10.1007/s10875-015-0169-x

By:

Romero, Camilo;
Sánchez, Isaura;
Gutierrez-Hincapié, Sebastian;
Álvarez-Álvarez, Jesús;
Pereañez, Jaime;
Ochoa, Rodrigo;
Muskus-López, Carlos;
Eraso, Ruth;
Echeverry, Carolina;
Arango, Catalina;
Restrepo, José;
Trujillo-Vargas, Claudia

Publication type:

Article

A Homozygous CARD9 Mutation in a Brazilian Patient with Deep Dermatophytosis.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 486, doi. 10.1007/s10875-015-0170-4

By:

Grumach, Anete;
Queiroz-Telles, Flavio;
Migaud, Mélanie;
Lanternier, Fanny;
Filho, Nelson;
Palma, Sandra;
Constantino-Silva, Rosemeire;
Casanova, Jean;
Puel, Anne

Publication type:

Article

Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 435, doi. 10.1007/s10875-015-0171-3

By:

Yin, Suellen;
Ferdman, Ronald;
Wang, Larry;
Markert, M.;
Tam, Jonathan

Publication type:

Article

Lung Magnetic Resonance Imaging with Diffusion Weighted Imaging Provides Regional Structural as well as Functional Information Without Radiation Exposure in Primary Antibody Deficiencies.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 491, doi. 10.1007/s10875-015-0172-2

By:

Milito, Cinzia;
Pulvirenti, Federica;
Serra, Goffredo;
Valente, Michele;
Pesce, Anna;
Granata, Guido;
Catalano, Carlo;
Fraioli, Francesco;
Quinti, Isabella

Publication type:

Article

Disseminated Mycobacterium avium Complex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 459, doi. 10.1007/s10875-015-0173-1

By:

Sharma, Varun;
Pai, Gautham;
Deswarte, Caroline;
Lodha, Rakesh;
Singh, Sarman;
Kang, Liew;
Yin, Chong;
Casanova, Jean-Laurent;
Bustamante, Jacinta;
Kabra, Sushil

Publication type:

Article

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 449, doi. 10.1007/s10875-015-0174-0

By:

Hsu, Amy;
Pittaluga, Stefania;
Martinez, Bianca;
Rump, Amy;
Raffeld, Mark;
Uzel, Gulbu;
Puck, Jennifer;
Freeman, Alexandra;
Holland, Steven

Publication type:

Article

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 463, doi. 10.1007/s10875-015-0176-y

By:

Kisand, Kai;
Peterson, Pärt

Publication type:

Article

Somatic Mosaicism for a NRAS Mutation Associates with Disparate Clinical Features in RAS-associated Leukoproliferative Disease: a Report of Two Cases.

Published in:

Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 454, doi. 10.1007/s10875-015-0163-3

By:

Shiota, Mitsutaka;
Yang, Xi;
Kubokawa, Mei;
Morishima, Tatsuya;
Tanaka, Kuniaki;
Mikami, Masamitsu;
Yoshida, Kenichi;
Kikuchi, Masako;
Izawa, Kazushi;
Nishikomori, Ryuta;
Okuno, Yusuke;
Wang, Xian;
Sakaguchi, Hirotoshi;
Muramatsu, Hideki;
Kojima, Seiji;
Miyano, Satoru;
Ogawa, Seishi;
Takagi, Masatoshi;
Hata, Daisuke;
Kanegane, Hirokazu

Publication type:

Article