Among genetic factors, variant of AIRE (Autoimmune Regulator) gene has been correlated with autoimmune manifestations in the APECED (8,9), rheumatoid arthritis (10,11), the immune deficiency omenn syndrome
(12), alopecia aerate (13), and lupus like panniculitis in patients with APECED (14) but not with type I diabetes, addison disease (15) and Graves' disease (16), myasthenia gravis (17) as well as inflammatory bowel disease (18).
The genetic variant has previously been reported as disease-causing in a patient from a patient cohort with radiosensitive SCID and Omenn syndrome
Rare congenital syndromes can also enter into the differential diagnosis of eosinophilia, especially in children, and include hyper-IgE syndrome, Omenn syndrome
, and familial eosinophilia.
Oliver Boyd had the procedure at two-and-a-half months in a bid to overcome a severe immune deficiency called Omenn syndrome
Recently, a hypomorphic AK2 mutation, with reduced enzyme expression, was identified in a case of inflammatory variant of leaky SCID, termed Omenn syndrome
High IgE levels are characteristic of the hyper IgE syndrome but also found in Omenn syndrome
, which is a combined immune deficiency.
The remaining 2 samples were from infants diagnosed with Omenn syndrome
and Wiskott-Aldrich syndrome.
Ffion was three months old when she was diagnosed with the genetic condition Omenn Syndrome
, a severe combined immunodeficiency (Scid), and admitted to Great Ormond Street Hospital (GOSH).
These disorders include metaphyseal dysplasia without hypotrichosis (MDWH), anauxetic dysplasia (AD), kyphomelic dysplasia (KD) and Omenn syndrome
, as well as CHH (Figure 3) .
The differential diagnosis of a patient with increased IgE levels and a severe eczematous eruption includes atopic dermatitis, WiskottAldrich syndrome, Netherton syndrome, Omenn syndrome
, DiGeorge syndrome, immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, and graft-versus-host disease (GVHD).
There were 10 cases of typical SCID, 1 child with Omenn syndrome
(leaky SCID), 4 with variants of SCID, 8 with low T-cell syndromes, and 7 with secondary causes of low T ceils.
Oliver had Omenn syndrome
, which meant his immune system was trying to destroy him.