Hyper Ige Syndrome (Job's Syndrome)

Beatriz Morillo-Gutierrez
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Treatment
AD-HIES (STAT3)
• Infection management:
Aggressive and prompt treatment of infections, especially pneumonias, to avoid the establishment of complications. Prophylaxis if needed (eg., TMP-SMX).
Anti-aspergillus prophylaxis (eg., itraconazole) in patients with pneumatoceles due to the increased risk of colonization or treatment in case of already established fungal lung infections; pulmonary surgery must be carefully considered in protracted aspergillus infections resistant to treatment.
Anticandidal treatment, (eg., fluconazole) in cases of CMC.
Consider immunoglobulin (IG) replacement in patients with impaired antibody responses.
• Skin care with intensive moisturisers, and eradication measures towards S. aureus, such as bleach baths or chlorhexidine washes; prophylactic topical antibiotics if needed.
• Consider haematopoietic stem cell transplant (HSCT) in an individual basis, for example, in case of malignancies, as there is lack of consistent results with high risks of the procedure.

AR- HIES (DOCK8)
DOCK8 deficiency has worse prognosis than other forms of HIES with significant mortality in the 2nd and 3rd decades of life. Therefore, HSCT should be done as it is the only curative option available, and before the development of comorbidities that could hinder the outcome of the procedure.
These patients need as well
• Aggressive management of infections, with antimicrobial prophylaxis and IG replacement if needed.
• Atopic manifestations care: asthma treatments if needed, skin moisturisers for dermatitis, etc.

PGM3 DEFICIENCY
Recently described, it is a glycosylation defect considered another multisystem disease, transmitted in an AR manner. The patients presented a variable phenotype, compatible with HIES for some of them, sharing the cutaneous rash, recurrent lung infections with secondary bronchiectasis and increased levels of IgE; other features presented were enhanced allergic manifestations, vasculitis and skeletal abnormalities, neurocognitive deficits with developmental delay and psychomotor retardation and autoimmunity. Amongst the laboratory findings, there is leukopenia with lymphopenia and neutropenia, decrease principally in the CD4 T compartment and low memory B cells and increased Inmunoglobulin levels.
The curative treatment is still to be elucidated and the patients need supportive care with infection management.

TYK2 MUTATIONS
TYK2 deficiency was the first mutation described in a patient with HIES, transmitted in an AR manner. TYK2 is a protein of the family of the janus kinases (JAK) that signal through STAT, involved therefore in the cytokine pathway already mentioned for STAT3. But so far, the spectrum of the phenotype in the patients affected is very broad, with only a few patients carrying this mutation sharing the characteristics of HIES; other manifestations are increased susceptibility to disseminated atypical mycobacterial, Salmonella spp. and skin viral infections. The blood counts and lymphocyte subsets are generally normal, and the treatment is focused in management of infections.


References
Hyper Ige Syndrome (Job's Syndrome) Hyper Ige Syndrome (Job's Syndrome) 09/05/2018
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