Volume 35; Issue 5

Journal of Clinical Immunology

Volume 35; Issue 5

1

Somatic Mosaicism for aNRASMutation Associates with Disparate Clinical Features inRAS-associated Leukoproliferative Disease: a Report of Two Cases

Shiota, Mitsutaka, Yang, Xi, Kubokawa, Mei, Morishima, Tatsuya, Tanaka, Kuniaki, Mikami, Masamitsu, Yoshida, Kenichi, Kikuchi, Masako, Izawa, Kazushi, Nishikomori, Ryuta, Okuno, Yusuke, Wang, Xian, Sa

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 545 KB

english, 2015

2

Mosaicism of anELANEMutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia

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

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 447 KB

english, 2015

3

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

Cohen, Jeffrey I., Niemela, Julie E., Stoddard, Jennifer L., Pittaluga, Stefania, Heslop, Helen, Jaffe, Elaine S., Dowdell, Kennichi

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 343 KB

english, 2015

4

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

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

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 719 KB

english, 2015

5

A Novel Pathogenic Variant inPRF1Associated with Hemophagocytic Lymphohistiocytosis

Romero, Camilo Andrés Pérez, Sánchez, Isaura Pilar, Gutierrez-Hincapié, Sebastian, Álvarez-Álvarez, Jesús A., Pereañez, Jaime Andres, Ochoa, Rodrigo, Muskus-López, Carlos Enrique, Eraso, Ruth G., Eche

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

6

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

Patel, N. C., Gallagher, J. L., Torgerson, T. R., Gilman, A. L.

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

7

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

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

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

8

A Homozygous CARD9 Mutation in a Brazilian Patient with Deep Dermatophytosis

Grumach, Anete S., de Queiroz-Telles, Flavio, Migaud, Mélanie, Lanternier, Fanny, Filho, Nelson Rosario, Palma, Sandra M. U., Constantino-Silva, Rosemeire Navickas, Casanova, Jean Laurent, Puel, Anne

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

9

DisseminatedMycobacterium aviumComplex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India

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

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 599 KB

english, 2015

10

IL2RGReversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Hsu, Amy P., Pittaluga, Stefania, Martinez, Bianca, Rump, Amy P., Raffeld, Mark, Uzel, Gulbu, Puck, Jennifer M., Freeman, Alexandra F., Holland, Steven M.

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

11

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

Kisand, Kai, Peterson, Pärt

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 918 KB

english, 2015

12

DisseminatedMycobacterium kansasiiDisease in Complete DiGeorge Syndrome

S. M. Yin, R. M. Ferdman, L. Wang, M. L. Markert, J. S. Tam

Journal:

Journal of Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 1.09 MB

english, 2015

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