903517
brief-report2020
CPJXXX10.1177/0009922820903517Clinical PediatricsRicha et al
Brief Report
Job’s Syndrome: A Rare Case Report
S. Richa, MD1,*, Himani Bhasin, MD2,* ,
Bishnupriya Sahoo, MD1, Pankaj Abrol, MD1,
and Shashi Sharma, MD1
Introduction
Hyperimmunoglobulin E syndrome (HIES) is a rare pri-
mary immunodeficiency disorder. Its autosomal domi-
nant form, known as Job’s syndrome, is a rare condition.
Its exact incidence is not known. It is a multisystem dis-
order affecting particularly the immune system and is
characterized by high levels of immunoglobulin E (IgE),
recurrent bacterial or fungal infections of skin and respi-
ratory tract, eczematous dermatitis, and the tendency for
vascular and skeletal abnormalities.1 Early diagnosis
and proper prophylaxis with antibiotics and antifungals
are the mainstay of the therapy.
In this article, we report a case of 6-year-old male child
who presented with classical symptoms of Job’s syn-
drome. Literature till date revealed that very few cases of
Job’s syndrome with craniosynostosis in pediatrics have
been reported. Due to its rarity, this case report sheds light
on clinical features, investigational procedures, and man-
agement strategy opted in this particular case.
Case Report
A 6-year-old boy, resident of Haryana (India), presented
with complaints of high-grade fever and swelling in left
thigh for 14 days. Initially, swelling was about a pea size
but gradually it increased to become the size of a golf
ball. Three months prior, he was hospitalized for similar
complaints for 1 month and had received intravenous
antibiotics.
He had history of recurrent pyoderma over body
since 2.5 years of age for which he had taken multiple
courses of oral antibiotics on an outpatient basis. He had
pneumonia at 1 year of age and chronic otitis media (left
ear) since 3 years of age. He was born of nonconsan-
guinity with normal birth and development. He had his-
tory of 2 elder male sibling losses at 6.5 months and 7
months of gestational age, respectively. He was immu-
nized as per his age.
On examination, he had short stature (87 cm), while
the weight and occipitofrontal circumference (50 cm)
were appropriate for age. He had moderate pallor and
papular itchy eruptions resembling atopic dermatitis on
trunk. He had dysmorphic facies with bulbous nose tip,
Clinical Pediatrics
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craniosynostosis, long philtrum, proptosis, hyper-
telorism, left eye strabismus, coarse skin, prognathism, a
thickened lower lip, and low-set ear lobes (Figure 1). He
had retained primary dentition. There were no neurocu-
taneous markers. Rest of the systemic examination was
normal.
Investigation revealed a hemoglobin level 7.3 g/dL,
total leukocyte count 25 600 cells/mm3 (neutrophils
70%, eosinophils 4%, lymphocytes 24%, monocytes
2%), total platelet count 5.7 L, and C-reactive protein
28 mg/L. Peripheral smear showed microcytic hypo-
chromic anemia. Tuberculosis workup and antibody test
for HIV virus were negative. Pus and exudate culture
reported growth of methicillin-resistant Staphylococcus
aureus, sensitive to tetracycline, amikacin, linezolid, tei-
coplanin and vancomycin, and amoxicillin-clavulanic
acid.
Based on the combination of chronic dermatitis
resembling atopic dermatitis, recurrent bacterial infec-
tions of skin and the respiratory tract, and facial abnor-
malities, possibility of Job’s syndrome was kept, and
serum IgE levels were tested. His IgE levels were
grossly elevated (>15 000 U/mL), thereby confirming
the diagnosis of Job’s syndrome. However, genetic
assessment was not done due to lack of availability in
the Indian setup and financial constraint.
At our hospital, on admission the child was started
empirically on amoxicillin-clavulanic acid and amikacin.
The abscess was drained. For skin lesions, topical mupi-
rocin ointment and cyprohepatidine was started. During
hospital stay, he developed abscesses on the proximal
right lower limb and at nape of the neck; both abscesses
were drained. Based on pus culture report, antibiotics
1
Shree Guru Gobind Singh Tricentenary Medical College and
Hospital, Budhera, Gurugram, Haryana, India
2
North Delhi Municipal Corporation Medical College and Hindu Rao
Hospital, Delhi, India
*These authors are co–first authors.
Corresponding Author:
Himani Bhasin, Department of Pediatrics, North Delhi Municipal
Corporation (NDMC) Medical College and Associated Hindu Rao
Hospital, Malka Ganj, Bridge Road, Civil Lines, Delhi 110007, India.
Email: himani.bhasin@yahoo.co.in
2 Clinical Pediatrics 00(0)
Figure 1.  The face of the patient with Job’s syndrome:
hypertelorism, broad philtrum and nose, deep-set ear lobes,
and thickened lower lip.
were upgraded to meropenem and vancomycin. While
draining the abscesses, the child developed vessel wall
injury and was referred to a higher center for cardiotho-
racic vascular opinion. Multiple bleeders were identified
and were managed appropriately. Wound dressings were
done daily along with the application of local antibiotics.
During the course of treatment, fever subsided, the lesions
started healing, and no new lesions were seen. Antibiotic
therapy was completed and the child was discharged on
cotrimoxazole and iron supplements with follow-up
ensured in pediatrics outpatient department after 1 week.
Genetic counseling of both parents was done and 50%
risk of recurrence in future pregnancies was explained.
Discussion
Job’s syndrome (autosomal dominant–HIES) is a rare
disorder first described by Davis et al in 1966.2 It
results from mutations in signal transducer and activa-
tor of transcription 3 (STAT3) gene. Less common
autosomal recessive–HIES form results from DOCK8
gene mutation.3
Autosomal dominant–HIES or Job’s syndrome is a
multisystem disorder and often presents early in life
with recurrent Staphylococcal and fungal infections,
pneumonias, lymphadenitis, eczematous skin, and
characteristic facial, dental, and skeletal abnormalities.
Affected children had retained primary dentition.
Typical facial features include prominent forehead;
deep-set eyes; broad nasal bridge; wide, bulbous nasal
tip; prognathism; and rare malformation—craniosynos-
tosis. Few patients may have scoliosis as well as fragile
bones that fracture easily.1,4
It can involve upper airway and may manifest as
paranasal sinusitis, exudative otitis media, otitis externa,
and mastoiditis. Staphylococcus aureus is the most fre-
quently isolated organism. Others are Streptococcus
pneumoniae, Haemophilus influenzae, and enteric gram-
negative bacteria.4
Ophthalmic manifestations include strabismus, cata-
ract, retinal detachment, and so on. They are more prone
to autoimmune disorders like systemic lupus erythema-
thosus,4 dermatomyositis and membranoproliferative
glomerulonephritis,5,6 aneurysms, and lymphoprolifera-
tive syndromes. Autosomal recessive–HIES presents
earlier with similar features, but they have fatal neuro-
logical abnormalities.7
The diagnosis can be established by typical pheno-
typic features supplemented with elevated serum IgE
(2000 U/mL) concentration and eosinophilia. Identi-
fication of mutation in STAT3 gene confirms the diagno-
sis. Management is directed mainly toward the preven-
tion and treatment of infections. Systemic antibiotics
and antifungal drugs play a vital role.8 Trimethoprim-
sulfamethoxazole or amoxicillin-clavulanic acid are usu-
ally the first drug of choice.8 Role of immunomodulatory
agents in HIES is not clear. Intravenous Ig is the most
often used immunomodulator, but the role is not well
established.9
Very few cases of Job’s syndrome have been reported
in literature. Our case was also unique because of the
association with rare malformation, craniosynostosis.
The possibility of HIES should be kept in mind when a
child presents with recurrent Staphylococcal infections,
eczematous rash, and classical phenotypic and biochemi-
cal findings. The diagnosis can be confirmed with molec-
ular genetic testing for mutations in the STAT3 gene.
Family screening and genetic counselling should be
offered to the patients.
Author Contributions
PA conceived the idea. HB, SR, BS and SS were involved in
clinical care of the patient. HB and SR wrote the first draft of
the manuscript which was critically revised by all the authors.
All authors approved the final draft of the manuscript.
Declaration of Conflicting Interests
The author(s) declared no potential conflicts of interest with
respect to the research, authorship, and/or publication of this
article.
Richa et al 3

Funding 3. Freeman AF, Holland SM. Clinical manifestations, eti-

The author(s) received no financial support for the research,
authorship, and/or publication of this article.
4. Grimbacher B, Holland SM, Puck JM. Hyper-IgE syn-
Informed Consent
Informed consent was obtained from the caregivers.
ORCID iD
Himani Bhasin https://orcid.org/0000-0001-8656-7873
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