Selective IgG subclass deficiency: quantification and clinical relevance
R JEFFERIS… - Clinical & Experimental …, 1990 - Wiley Online Library
Each of the four human IgG subclasses exhibits a unique profile of effector functions relevant
to the clearance and elimination of infecting microorganisms. The quantitative response …
to the clearance and elimination of infecting microorganisms. The quantitative response …
Common variable immune deficiency: respiratory manifestations, pulmonary function and high‐resolution CT scan findings
KM Thickett, DS Kumararatne, AK Banerjee, R Dudley… - Qjm, 2002 - academic.oup.com
Background: Common variable immune deficiency (CVID) is prone to under‐diagnosis and
may not reach relevant specialists until late in life. Morbidity is most commonly due to acute …
may not reach relevant specialists until late in life. Morbidity is most commonly due to acute …
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
R Döffinger, A Smahi, C Bessia, F Geissmann… - Nature …, 2001 - nature.com
The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with
immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations …
immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations …
Human blood IgM “memory” B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire
S Weller, MC Braun, BK Tan, A Rosenwald, C Cordier… - Blood, 2004 - ashpublications.org
The human peripheral B-cell compartment displays a large population of immunoglobulin M–
positive, immunoglobulin D–positive CD27+ (IgM+ IgD+ CD27+)“memory” B cells carrying a …
positive, immunoglobulin D–positive CD27+ (IgM+ IgD+ CD27+)“memory” B cells carrying a …
Clinical consequences of defects in the IL-12-dependent interferon-gamma (IFN-γ) pathway
DA Lammas, JL Casanova… - Clinical & Experimental …, 2000 - academic.oup.com
Following infection with intracellular pathogens like mycobacteria, listeria, toxoplasma and
leishmania, mononuclear phagocytes and related antigen-presenting cells (APC), ie …
leishmania, mononuclear phagocytes and related antigen-presenting cells (APC), ie …
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
E Jouanguy, S Lamhamedi-Cherradi, D Lammas… - Nature …, 1999 - nature.com
The immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine
and environmental mycobacteria in humans remains largely unknown. We describe 18 …
and environmental mycobacteria in humans remains largely unknown. We describe 18 …
[HTML][HTML] Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently
described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD …
described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD …
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency
C Picard, H Von Bernuth, P Ghandil, M Chrabieh… - Medicine, 2010 - journals.lww.com
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid
differentiation factor (MyD) 88 deficiencies impair Toll-like receptor (TLR)-and interleukin-1 …
differentiation factor (MyD) 88 deficiencies impair Toll-like receptor (TLR)-and interleukin-1 …
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries
L De Beaucoudrey, A Samarina, J Bustamante… - Medicine, 2010 - journals.lww.com
Interleukin-12 receptor A1 (IL-12RA1) deficiency is the most common form of Mendelian
susceptibility to mycobacterial disease (MSMD). We undertook an international survey of …
susceptibility to mycobacterial disease (MSMD). We undertook an international survey of …
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
F Altare, D Lammas, P Revy… - The Journal of …, 1998 - Am Soc Clin Investig
Interferon-gamma receptor ligand-binding chain (IFN-gammaR1) or signaling chain (IFN-
gammaR2) deficiency, like interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency …
gammaR2) deficiency, like interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency …