The presentation of this condition is variable making the diagnosis difficult. The most common features include * Immune dysregulation (95%) * Organomegaly (86%) * Recurrent infections (71%) * Hypogammaglobulinemia (57%) * Granulomatous lymphocytic interstitial lung disease (38%) There is also a tendency to develop inflammatory bowel disease.
LPS-responsive beige-like anchor protein deficiency
Alpha-gal allergy
X-linked severe combined immunodeficiency
Neutrophil-specific granule deficiency
Leukocyte adhesion molecule deficiency
Humoral immune deficiency
Combined immunodeficiencies
T cell deficiency