Advances in evaluation of chronic diarrhea in infants

JR Thiagarajah, DS Kamin, S Acra, JD Goldsmith… - Gastroenterology, 2018 - Elsevier
Diarrhea is common in infants (children less than 2 years of age), usually acute, and, if
chronic, commonly caused by allergies and occasionally by infectious agents. Congenital …

Coronavirus disease 2019 in patients with inborn errors of immunity: lessons learned

G Bucciol, SG Tangye, I Meyts - Current opinion in pediatrics, 2021 - journals.lww.com
We review the characteristics of SARS-CoV-2 infection in a large number of patients with IEI.
Overall, we found that combined immunodeficiencies, immune dysregulation disorders, and …

Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond

G de Valles-Ibáñez, A Esteve-Sole, M Piquer… - Frontiers in …, 2018 - frontiersin.org
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary
immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor …

[HTML][HTML] Autoimmune lymphoproliferative syndrome: more than a FAScinating disease

K Bride, D Teachey - F1000Research, 2017 - ncbi.nlm.nih.gov
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized
by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain …

Uses of next-generation sequencing technologies for the diagnosis of primary immunodeficiencies

M Seleman, R Hoyos-Bachiloglu, RS Geha… - Frontiers in …, 2017 - frontiersin.org
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading
to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies …

[HTML][HTML] The clinical implications of selective IgA deficiency

S Swain, C Selmi, ME Gershwin, SS Teuber - Journal of translational …, 2019 - Elsevier
Abstract Selective IgA deficiency (SIgAD) is the most common primary immunodeficiency but
does not always result in clinical disease. This may in part be due to the definition based on …

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

A Vargas-Hernández, EM Mace, O Zimmerman… - Journal of Allergy and …, 2018 - Elsevier
Background Natural killer (NK) cells are critical innate effector cells whose development is
dependent on the Janus kinase–signal transducer and activator of transcription (STAT) …

Common variable immunodeficiency and liver involvement

J Song, A Lleo, GX Yang, W Zhang, CL Bowlus… - Clinical reviews in …, 2018 - Springer
Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder,
characterized by remarkable hypogammaglobulinemia. The disease can develop at any age …

Pediatric-onset Evans syndrome: heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

C Besnard, E Levy, N Aladjidi, MC Stolzenberg… - Clinical …, 2018 - Elsevier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and
immune thrombocytopenia. Clinical presentation includes manifestations of immune …

Treatment with rapamycin can restore regulatory T-cell function in IPEX patients

L Passerini, F Barzaghi, R Curto, C Sartirana… - Journal of Allergy and …, 2020 - Elsevier
Background Immune-dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a lethal disease caused by mutations in a transcription factor critical for the …