Results 21 to 30 of about 1,006 (159)
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 +3 more
doaj +1 more source
Acrodermatitis enteropathica with dysgammaglobulinemia [PDF]
Pediatric Research, 1971 In 1942 Danbolt and Closs described the association of diarrhea, eczematoid rash and alopecia. These physical findings constitute the triad essential for the diagnosis of this autosomal recessive disease. The demonstration of the efficacy of Diodoquin therapy in this otherwise fatal disease was by Dallaha and Lorincz in 1953.
O Rennert +3 more
openaire +1 more source
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
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 +4 more
doaj +1 more source
, 2021 Allergy, Volume 76, Issue 5, Page 1588-1591, May 2021.
Roy Gerth van Wijk +6 more
wiley +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 +7 more
doaj +1 more source
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 +9 more
wiley +1 more source
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 +10 more
wiley +1 more source
La Pediatria Medica e Chirurgica, 2014 The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD).
A. Berio, G. Mangiante, A. Piazzi
doaj +1 more source
Aspergilloma Superimposed Infection on Lymphoid Interstitial Pneumonia
Case Reports in Emergency Medicine, Volume 2020, Issue 1, 2020., 2020 We describe a case of a 27‐year‐old female without any prior underlying immunodeficiency syndromes who presented with hemoptysis secondary to subacute invasive pulmonary aspergillosis and subsequently diagnosed with lymphoid interstitial pneumonia (LIP). CT chest demonstrated bilateral interstitial disease with patchy opacities and multiple large cysts
Daniel Tran +5 more
wiley +1 more source