Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity
G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
Primary immune regulatory disorders: a growing universe of immune dysregulation
AY Chan, TR Torgerson - Current opinion in allergy and clinical …, 2020 - journals.lww.com
It is important to recognize the broad clinical manifestations of PIRD as patients may have
symptoms atypical of classical 'immunodeficiency'. Because of their diverse immune …
symptoms atypical of classical 'immunodeficiency'. Because of their diverse immune …
Therapeutic options for CTLA-4 insufficiency
D Egg, IC Rump, N Mitsuiki, J Rojas-Restrepo… - Journal of Allergy and …, 2022 - Elsevier
Background Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-
4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals …
4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals …
Primary immune regulatory disorders with an autoimmune lymphoproliferative syndrome-like phenotype: immunologic evaluation, early diagnosis and management
M López-Nevado, LI González-Granado… - Frontiers in …, 2021 - frontiersin.org
Primary immune regulatory disorders (PIRD) are associated with autoimmunity,
autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune …
autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune …
[HTML][HTML] Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity …
VK Tesch, H Abolhassani, B Shadur, J Zobel… - Journal of Allergy and …, 2020 - Elsevier
Background Recent findings strongly support hematopoietic stem cell transplantation
(HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein …
(HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein …
Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review
M Jamee, S Hosseinzadeh… - Clinical & …, 2021 - academic.oup.com
Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and
lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are newly …
lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are newly …
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Background Inborn errors of immunity have been implicated in causing immune
dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses …
dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses …
The Middle East and North Africa diagnosis and management guidelines for inborn errors of immunity
Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting
children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis …
children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis …
Clinical, immunological, and genetic features in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like syndrome
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 …
syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 …
Autoimmunity in primary immunodeficiency disorders: an updated review on pathogenic and clinical implications
G Costagliola, S Cappelli, R Consolini - Journal of Clinical Medicine, 2021 - mdpi.com
During the last years, studies investigating the intriguing association between
immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the …
immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the …