Secondary immune deficiency and primary immune deficiency crossovers: hematological malignancies and autoimmune diseases

M Ballow, S Sánchez-Ramón, JE Walter - Frontiers in Immunology, 2022 - frontiersin.org
Primary immunodeficiencies (PIDs), a heterogenous group of inborn errors of immunity, are
predetermined at birth but may evolve with age, leading to a variable clinical and laboratory …

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 …

Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of …

HH Uhlig, F Charbit-Henrion, D Kotlarz… - Journal of pediatric …, 2021 - journals.lww.com
Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

[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 …

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 …

There is no gene for CVID—novel monogenetic causes for primary antibody deficiency

NJ Ramirez, S Posadas-Cantera… - Current Opinion in …, 2021 - Elsevier
'There is no gene for fate'(citation from the movie 'GATTACA')—and there is no gene for
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …

Heterogeneity of liver disease in common variable immunodeficiency disorders

A Pecoraro, L Crescenzi, G Varricchi… - Frontiers in …, 2020 - frontiersin.org
Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency
(PID) in adulthood and is characterized by severe reduction of immunoglobulin serum levels …

[HTML][HTML] Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes

L Gámez-Díaz, B Grimbacher - biomedical journal, 2021 - Elsevier
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited non-malignant and non-
infectious lymphoproliferative syndrome caused by mutations in genes affecting the extrinsic …

Regulatory T cells: angels or demons in the pathophysiology of sepsis?

Y Gao, Y Yao, X Zhang, F Chen, X Meng… - Frontiers in …, 2022 - frontiersin.org
Sepsis is a syndrome characterized by life-threatening organ dysfunction caused by the
dysregulated host response to an infection. Sepsis, especially septic shock and multiple …

Bronchiectasis in common variable immunodeficiency: a systematic review and meta‐analysis

N Ramzi, M Jamee, M Bakhtiyari… - Pediatric …, 2020 - Wiley Online Library
Background Common variable immunodeficiency (CVID) is the most prevalent symptomatic
primary immunodeficiency disorder characterized by infectious and noninfectious …