Results 31 to 40 of about 1,434 (204)

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. [PDF]

PLoS ONE, 2017
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia.
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu   +9 more
doaj   +1 more source

Delayed diagnosis of Angioimmunoblast T-cell lymphoma presenting with type II Cryoglobulinemia and acute kidney injury: a case report and narrative review of the literature

BMC Nephrology, 2020
Background Angioimmunoblastic T cell lymphoma (AITL) is an infrequent hematological malignancy with variable and often atypical presentations. The presence of dysproteinemia, autoantibodies and systemic involvement in AITL has often led to a delay in ...
Xiang-Yang Li, Hai-Yan He, Shu-Ling Yue, Pearl Pai   +3 more
doaj   +1 more source

Selective immunoglobulin M deficiency in an adult with miliary tuberculosis: A clinically interesting coexistence. A case report and review of the literature

International Journal of Mycobacteriology, 2016
Selective immunoglobulin M (SIgM) deficiency is a rare form of dysgammaglobulinemia. Here we are reporting a 31 year old man with multiple cervical and testicular abscesses who was investigated and found to have miliary tuberculosis (MTB) with primary ...
Hassan A Hassanein, Mahmoud I Elbadry
doaj   +1 more source

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective [PDF]

, 2018
X-linked lymphoproliferative disease (XLP) was first described in the 1970s as a fatal lymphoproliferative syndrome associated with infection with Epstein–Barr virus (EBV).
Baldanzi, Bar, Bergsten, Bloch-Queyrat, Booth, Booth, Booth, Bottino, Candotti, Cannon, Cannons, Cannons, Cannons, Cannons, Chan, Chan, Chen, Chu, Chung, Coffey, Cohen, Crotty, Crotty, Czar, Das, Dong, Dong, Dupré, Dutz, Freeman, Gadue, Georgiadis, Ghosh, Gilmour, Grierson, Griewank, Harada, Harrington, Henter, Hislop, Holt, Hron, Jordan, Kageyama, Kanegane, Kim, Kohn, Lankester, Latour, Latour, Li, Loeffel, Ma, Ma, Marsh, Marsh, McCausland, Mejstríková, Menard, Milone, Morra, Nakajima, Nichols, Nichols, Nichols, Ochs, Pachlopnik Schmid, Palendira, Palendira, Parolini, Pasquier, Pawson, Porteus, Poy, Provisor, Purtilo, Purtilo, Qasim, Qi, Rigaud, Rivat, Rougemont, Ruffo, Sayos, Schwartzberg, Seemayer, Sepulveda, Shlapatska, Snow, Sullivan, Sumegi, Sumegi, Talaat, Tangye, Tangye, Tangye, Thorley-Lawson, Veillette, Victora, Worth, Wu, Wu, Wu, Yin, Zhang, Zhao   +105 more
core   +1 more source

An unusual cause of recurrent pneumonia in adults

Lung India, 2014
Selective IgM deficiency is a rare primary immunodeficiency defined as isolated low levels of IgM. It presents with recurrent infections and has been described as first presenting in adulthood with recurrent respiratory tract infections.
Varun Dhir, Vinay Sagar, Ashutosh Aggarwal, Amit Rawat, Manphool Singhal   +4 more
doaj   +1 more source

Lung disease in primary antibody deficiency. [PDF]

, 2015
This Review summarises current knowledge on the pulmonary manifestations of primary antibody deficiency (PAD) syndromes in adults. We describe the major PAD syndromes, with a particular focus on common variable immunodeficiency (CVID).
Grimbacher, B, Hurst, JR, Verma, N
core   +1 more source

Interleukin-2-Inducible T-Cell Kinase Deficiency—New Patients, New Insight?

Frontiers in Immunology, 2018
Patients with primary immunodeficiency can be prone to severe Epstein–Barr virus (EBV) associated immune dysregulation. Individuals with mutations in the interleukin-2-inducible T-cell kinase (ITK) gene experience Hodgkin and non-Hodgkin lymphoma, EBV ...
Sujal Ghosh, Ingo Drexler, Sanil Bhatia, Heiko Adler, Heiko Adler, Heiko Adler, Andrew R. Gennery, Arndt Borkhardt   +7 more
doaj   +1 more source

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency) [PDF]

, 2011
X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by
Canioni, D, et al, Moshous, D, Pachlopnik Schmid, Jana   +3 more
core   +1 more source

CD8+ T‐cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations

Journal of Clinical Laboratory Analysis, Volume 34, Issue 9, September 2020., 2020
Abstract Background Dyskeratosis congenita (DC) is a syndrome resulting from defective telomere maintenance. Immunodeficiency associated with DC can cause significant morbidity and lead to premature mortality, but the immunological characteristics and molecular hallmark of DC patients, especially young patients, have not been described in detail ...
Ting Zeng, Ge Lv, Xuemei Chen, Lu Yang, Lina Zhou, Ying Dou, Xuemei Tang, Jun Yang, Yunfei An, Xiaodong Zhao   +9 more
wiley   +1 more source

Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease

Pediatric Blood &Cancer, Volume 67, Issue 4, April 2020., 2020
Abstract Mutations in SH2D1A, encoding the intracellular adaptor signaling lymphocyte activation molecule associated protein (SAP), are associated with X‐linked lymphoproliferative disease type 1 (XLP1). We identified a novel hemizygous SH2D1A c.49G > A (p.E17K) variant in a 21‐year‐old patient with fatal Epstein‐Barr virus infection–associated ...
Lamberto Torralba‐Raga, Bianca Tesi, Samuel C. C. Chiang, Heinrich Schlums, Magnus Nordenskjöld, AnnaCarin Horne, Jan‐Inge Henter, Marie Meeths, Mohamed Abdelhaleem, Sheila Weitzman, Yenan Bryceson   +10 more
wiley   +1 more source