hyper immunoglobulin e syndrome ( hies ) is a rare primary immunodeficiency disorder characterized by elevated serum ige , dermatitis , and recurrent skin and lung infections .
three genetic etiologies of hyper ige have been identified : stat3 , dock8 , and tyk2 .
association with tyk2 deficiency has shown some reported cases of hyper ige with disseminated nontuberculous mycobacterial ( ntm ) infection .
microbial cultures of recurrent pulmonary infections show staphylococcus aureus , streptococcus pneumonia , and haemophilus influenzae more commonly while nontuberculous mycobacteria are secondary pathogens in pulmonary infections .
tuberculosis ( tb ) has been rarely reported in children with hies with sporadic report of miliary tb .
a 15-year - old boy who had been previously diagnosed to have hies in view of recurrent skin pustules with dermatitis and elevated serum ige ( ige = 3943 iu / ml [ normal = 10180 iu / ml ] ) along with skin biopsy suggestive of lymphomatoid papulosis presented with recurrent abdominal pain and fever 3 months ago .
ultrasound ( usg ) of the abdomen showed multiple mesenteric lymphadenopathy , and mantoux test was positive ( 25 mm ) .
he was started on four drugs for antituberculous therapy consisting of isoniazid ( h ) , rifampicin ( r ) , ethambutol ( e ) , and pyrazinamide ( z ) for 2 months and then hr as continuation phase . however , the child stopped antituberculosis treatment ( att ) after taking it only for 3 months .
he then again had pain in the abdomen and presented to us for further management . on examination ,
his weight was 24 kg , height was 134 cm , and he had pallor and papular dermatitis all over the skin . on systemic examination , he had mild tenderness in the periumbilical region .
investigations showed hemoglobin of 8.9 mg / dl , white blood cell count of 8100/cumm ( 58% polymorphs , 35% lymphocytes , 5% eosinophils , and 2% monocytes ) , erythrocyte sedimentation rate of 77 mm at the end of 1 h , and platelets of 238,000/cumm .
usg of the abdomen showed multiple mesenteric lymph nodes with largest being 1.6 cm  1.4 cm .
his urine showed albuminuria with microscopic hematuria . a repeat serum ige was elevated ( 8856
he was started on four drugs for att ( hrze ) , and urine was obtained for mycobacterium tuberculosis culture .
natural human immunity to mycobacteria group relies on the functional interleukin-12/23-interferon - gamma integrity of macrophages connecting to t - lymphocytes / natural killer cells .
patients with severe forms of primary immunodeficiency diseases have more profound immune defects involving this circuit , as seen in severe combined immunodeficiency , complete digeorge syndrome , x - linked hyper igm syndrome , cd40 deficiency , chronic granulomatous disease , and hies .
a study shows that ntm infections are more common in hies patients with structural airway disease . in the absence of predisposing airway changes ,
ntm infections were not found in hies patients , suggesting that susceptibility to pulmonary ntm in hies may be more related to airway than immune dysfunction .
an alternate explanation is the severity of immune dysfunction , through recurring infections , predisposes both to the severity of the structural lung disease and ntm disease .
our patient was diagnosed to have abdominal tb based on the presence of mesenteric nodes , a positive mantoux test , and previous response to anti - tb therapy .
we do not have bacteriological confirmation of tb as the lymph node biopsy was not undertaken in our patient .
our patient did not have previous recurrent chest infections which could predispose to structural lung disease and thus he did not have pulmonary tb . the diagnosis of hies can be made based on a combination of clinical and laboratory findings for both types of hies .
clinically , patients usually present with recurrent skin and lung infections , in the form of abscesses , dermatitis , or pneumonia .
our patient had clinical features of skin involvement and elevated ige levels with recurrent skin infections suggestive of hies .
we have not been able to do mutation analysis in our patient due to nonavailability of test .
antibiotic prophylaxis with trimethoprim - sulfamethoxazole is frequently used as prophylaxis against recurrent respiratory infections .
treatment of skin conditions such as eczema and skin infections is an important component of hies management .
while there is no established guideline for the treatment of tb in primary immunodeficiencies , a case report of disseminated ntm in a patient with hies mentions that treatment with standard combination therapy for tb for a period of 12 months is indicated .
another case report of miliary tb in hies was successfully treated with first - line att drugs .
the role of interferon - gamma , granulocyte - colony stimulating factor , or other immune modulators in hies is unproven .
bone marrow transplantation ( bmt ) is curative for autosomal - recessive hies with dock8 deficiency and it is recommended .
autosomal - dominant hies patients do well with intensive therapy and supportive care , and bmt is not recommended for those individuals .
 hyper immunoglobulin e syndrome ( hies ) is a rare primary immunodeficiency disorder characterized by elevated serum ige , dermatitis , and immunodeficiency that predisposes to multiple skin and lung infections . 
 the most frequent pathogen responsible for infections in these patients is staphylococcus aureus . 
 tuberculosis ( tb ) in patients with hies is an uncommon finding , and there are only a few reports of mycobacterial infections in known cases of hies . 
 we present a case of abdominal tb that developed in a 15-year - old boy who also had hies . 