Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …

Treatment of chronic granulomatous disease (CGD) with myeloablative bone marrow
transplantation is considered risky. This study investigated complications and survival …

Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …

We present clinical data on 558 patients with deletions within the DiGeorge syndrome
critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had …

Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal
dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here …

CGD is an immunodeficiency caused by deletions or mutations in genes that encode
subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH …

Summary Tyrosine kinase 2 (Tyk2) is a nonreceptor tyrosine kinase that belongs to the
Janus kinase (Jak) family. Here we identified a homozygous Tyk2 mutation in a patient who …

Background Common variable immunodeficiency (CVID) is an antibody deficiency with an
equal sex distribution and a high variability in clinical presentation. The main features …

Background The outcomes of gene therapy to correct congenital immunodeficiencies are
unknown. We reviewed long-term outcomes after gene therapy in nine patients with X-linked …

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous
candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have …