NF- κB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria [PDF]
NF- κB essential modulator (NEMO) is a kinase integral to the macrophage TNF-α pathway, which leads to the intracellular destruction of Mycobacteria species.
Abraham Tareq Yacoub +8 more
core +2 more sources
"Primary Immunodeficiencies Inducing EBV-Associated Severe Illnesses "
Epstein-Barr virus (EBV) is a ubiquitous human -herpesvirus that infects about 95% of the adult population. The majority of primary infections occurs in early childhood and is generally subclinical; it can cause infectious mononucleosis (IM), which is ...
Toshio Miyawaki
doaj
Developing novel therapies for X-linked lymphoproliferative disease type 1 [PDF]
X-linked lymphoproliferative disease type 1 (XLP1) arises from mutations in the SH2D1A gene encoding SAP, an intracellular adaptor protein expressed in T, NK and NKT cells.
Panchal, Neelam
core
SH2D1A Regulates T-dependent Humoral Autoimmunity [PDF]
The signaling lymphocytic activation molecule (SLAM)/CD150 family includes a family of chromosome 1–encoded cell surface molecules with costimulatory functions mediated in part by the adaptor protein SH2D1A (SLAM-associated protein, SAP).
Caplan, Liron +4 more
core +3 more sources
Monoclonal Immunoglobulin and its Related Abnormalities in Cases of Plasma Cell Dyscrasia [PDF]
1977-01One hundred and twenty four cases of plasma cell dyscrasia (PCD) were investigated in terms of monoclonal protein and its related abnonnalities. Seventy nine cases of myeloma were compared with 45 cases of PCD without osteolytic myeloma.
46688 +5 more
core
Clinical and immunological assessment of 94 patients with primary humoral immunodeficiency: Common variable immunodeficiency, selective IgA deficiency and polysaccharide antibody deficiency syndrome [PDF]
We present the clinical and B cell immunophenotypical characterization of 94 patients with Common Variable immunodeficiency (CVID), selective IgA deficiency (SIgAD) and polysaccharide antibody deficiency syndrome (SAD).
Bezrodnik, Liliana +2 more
core +1 more source
X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature [PDF]
Background Common variable immune deficiency (CVID), one of the most common primary immunodeficiency diseases presents in adults, whereas X-linked agammaglobulinemia (XLA), an inherited humoral immunodeficiency, is usually diagnosed early in life after ...
D Stewart +17 more
core +4 more sources
Plućna infekcija izazvana organizmom Nocardia asteroides: prikaz slučaja [PDF]
Presentation is made of a 53-year-old woman with pulmonary infection caused by Nocardia asteroides. Tracheal aspirate was obtained and examined microbiologically.
Ines Jajić-Benčić +3 more
core +1 more source
Functional characterization of a novel IL2RG mutation causing atypical SCID [PDF]
The interleukin-2 receptor common gamma chain gene (IL2RG) encodes for the common gamma chain (yc), which is a part of multiple interleukin receptors such as IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21 receptor.
Gratz, Hans Peter
core +1 more source

