Autosomal recessive hyper‐IgE syndrome successfully treated with hematopoietic stem cell transplantation

Abstract

Autosomal recessive hyper‐IgE syndrome is a primary immunodeficiency that results from a mutation in the DOCK8 gene. We report a case of a patient presenting with severe eczema, atopy, and recurrent skin infections since the first months of life. The diagnosis of autosomal recessive hyper‐IgE syndrome was made at the age of 7 by a positive DOCK8 genetic test. The patient underwent hematopoietic stem cell transplantation, with complete remission of the various manifestations.

AllergoOncology: ultra-low IgE, a potential novel biomarker in cancer—a Position Paper of the European Academy of Allergy and Clinical Immunology (EAACI)

“…Very high and extremely high total serum IgE levels are seen in certain malignancies such as lymphoma [146] and IgE myeloma [147] May be a sensitive and specific marker for CVID (Common Variable Immunodeficiency) when there is high suspicion for primary humoral deficiency [38] Cannot exclude immunodeficiency Elevated IgE levels may raise suspicion for certain immunodeficiencies in appropriate patients (e.g. HyperIgE syndrome (HIES), Wiskott-Aldrich syndrome; immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX); Omenn syndrome; Atypical complete DiGeorge syndrome) [35,83,86] Others categorized serum IgE levels of 400-1000 kU/L as "moderately elevated IgE levels", while IgE > 10,000 kU/L was labelled as "extraordinarily high serum IgE" [29] or "extremely elevated IgE" [35]. We propose a unified classification of different total IgE cut-off levels and their possible associated pathologies ( Table 2).…”

“…Some of these rare primary immunodeficiencies caused by STAT3 mutations [31, 84 ] are characterized by extremely high serum IgE levels (often above 10,000 kU/L) and are associated with a pruritic eczematous skin rash, eosinophilia and impairments of other organ systems including intelligence and motor function. These human hyper‐IgE syndromes (HIES) include the autosomal dominant Job´s syndrome and autosomal recessive PGM3 (phosphoglucomutase 3) and SPINK5 (Serine Peptidase Inhibitor Kazal Type 5) syndromes, that can be successfully treated with anti‐IgE antibody therapy [85 ] or stem cell transplantation [86 ].…”

“…Very high and extremely high total serum IgE levels are seen in certain malignancies such as lymphoma [ 146 ] and IgE myeloma [ 147 ] May be a sensitive and specific marker for CVID (Common Variable Immunodeficiency) when there is high suspicion for primary humoral deficiency [ 38 ] Cannot exclude immunodeficiency Elevated IgE levels may raise suspicion for certain immunodeficiencies in appropriate patients (e.g. HyperIgE syndrome (HIES), Wiskott-Aldrich syndrome; immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX); Omenn syndrome; Atypical complete DiGeorge syndrome) [ 35 , 83 , 86 ] …”

“…Elevated IgE levels may raise suspicion for certain immunodeficiencies in appropriate patients (e.g. HyperIgE syndrome (HIES), Wiskott‐Aldrich syndrome; immunodysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX); Omenn syndrome; Atypical complete DiGeorge syndrome) [35, 83, 86 ]…”

Biological and clinical significance of T helper 17 cell deficiency: insight into monogenic defects

“…Successful HSCT for patients with DOCK8mutation has been reported in several cases. HSCT has been shown to cure nearly all clinical and laboratory manifestations by reconstituting the normal function of the immune system (86,87). In a cohort study by Haskologluet al, HSCT led to a marked improvement in atopic dermatitis and food allergies, along with decreasing infection frequency.…”