Primary antibody deficiencies (PADs) are the most common form of primary
immunodeficiency and predispose to severe and recurrent pulmonary infections, which can …

A broad spectrum of autoimmunity is now well described in patients with primary
immunodeficiencies (PIDs). Management of autoimmune disease in the background of PID …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Background X-linked agammaglobulinemia is an inherited immunodeficiency recognized
since 1952. In spite of seven decades of experience, there is still a limited understanding of …

Background X-linked agammaglobulinemia (XLA) is the prototype of primary humoral
immunodeficiencies. Long-term follow-up studies regarding disease-related complications …

BTKbase is an international database for disease‐causing variants in Bruton tyrosine kinase
(BTK) leading to X‐linked agammaglobulinemia (XLA), a rare primary immunodeficiency of …

Background There is paucity of literature on XLA from developing countries. Herein we
report the clinical and molecular profile and outcome in a multicenter cohort of patients with …

Primary immunodeficiency (PID) may impact any component of the immune system. The
number of PID and immune dysregulation disorders is growing steadily with advancing …

T‐cell receptor excision circles (TREC s) and κ‐deleting recombination excision circles
(KREC s) are recently used for detection of T or B cell lymphopenia in neonates based on …

Objectives: Identify the etiology of X-linked agammaglobulinemia. Review the evaluation
process for X-linked agammaglobulinemia. Outline the treatment and management options …