[HTML][HTML] The diagnostic approach to monogenic very early onset inflammatory bowel disease

HH Uhlig, T Schwerd, S Koletzko, N Shah… - Gastroenterology, 2014 - Elsevier
Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

The X chromosome in immune functions: when a chromosome makes the difference

C Libert, L Dejager, I Pinheiro - Nature Reviews Immunology, 2010 - nature.com
In response to various immune challenges, females show better survival than males; the X
chromosome has an important role in this immunological advantage. X chromosome-linked …

2013 IDSA clinical practice guideline for vaccination of the immunocompromised host

LG Rubin, MJ Levin, P Ljungman… - Clinical infectious …, 2014 - academic.oup.com
An international panel of experts prepared an evidenced-based guideline for vaccination of
immunocompromised adults and children. These guidelines are intended for use by primary …

Very early onset inflammatory bowel disease: a clinical approach with a focus on the role of genetics and underlying immune deficiencies

J Ouahed, E Spencer, D Kotlarz… - Inflammatory bowel …, 2020 - academic.oup.com
Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before
6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some …

Anti-inflammatory mechanisms of bioactive milk proteins in the intestine of newborns

DEW Chatterton, DN Nguyen, SB Bering… - The international journal …, 2013 - Elsevier
The human newborn infant is susceptible to gut inflammatory disorders. In particular, growth-
restricted infants or infants born prematurely may develop a severe form of intestinal …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency

C Picard, JL Casanova, A Puel - Clinical microbiology reviews, 2011 - Am Soc Microbiol
Autosomal recessive IRAK-4 and MyD88 deficiencies predispose affected patients to
recurrent invasive pyogenic bacterial infection. Both defects result in the selective …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, IL Bernstein, DA Khan, ZK Ballas… - Annals of allergy …, 2005 - Elsevier
The purpose of this Practice Parameter for the Diagnosis and Management of Primary
Immunodeficiency is to provide the consultant allergist/immunologist with a practical guide …

Inborn errors of IL-12/23-and IFN-γ-mediated immunity: molecular, cellular, and clinical features

O Filipe-Santos, J Bustamante, A Chapgier… - Seminars in …, 2006 - Elsevier
Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease
caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since …

Development of population-based newborn screening for severe combined immunodeficiency

K Chan, JM Puck - Journal of Allergy and Clinical Immunology, 2005 - Elsevier
BACKGROUND: Severe combined immunodeficiency (SCID) is a treatable, inherited lack of
cellular and humoral immunity caused by diverse mutations in several different genes and …