A 10 year old male child was brought to skin OPD with complaints of recurrent skin infections. There was also history of recurrent respiratory tract infections. Mother gave history of delayed shedding of primary teeth and eruption of permanent teeth as well. On chest X-ray multiple pneumatocoeles were seen. One of his elder brothers also had similar history and facial abnormalities.
What is the probable diagnosis?
What investigations would you advice for diagnosis of the case?
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
ReplyDeleteInvestigations-
1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Mitali Mehrotra (roll no.45)
ReplyDeleteInvestigations
1 skin culture
2 x ray
3 ct scan
4 direct smear microscopy
Diagnosis
The diagnosis may be STAT 3 hyper IgE syndrome.
Autosomal dominant
Characterized by elevation of IgE
Clinical manifestation
respiratory tract infection
recurrent skin infection
Pneumatoceles and bronchiectasis result from aberrant healing of pneumonias
Non immune features include delayed shedding of primary teeth and eruption of permanent teeth in patient
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis
The diagnosis may be STAT 3 hyper IgE syndrome.
Autosomal dominant
Characterized by elevation of
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
ReplyDeleteAreeba Khan
Roll no 16
Investigations
1 skin culture
2 x ray
3 ct scan
4 direct smear microscopy
Diagnosis
The diagnosis may be STAT 3 hyper IgE syndrome.
Autosomal dominant
Characterized by elevation of IgE
Clinical manifestation
respiratory tract infection
recurrent skin infection
Pneumatoceles and bronchiectasis result from aberrant healing of pneumonias
Non immune features include delayed shedding of primary teeth and eruption of permanent teeth in patient
Name - Ankur kumar
ReplyDeleteRoll no. 10
Investigations-
1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Name: HIFZA NAFIS
ReplyDeleteRoll number: 34
Probable diagnosis: STAT3 hyper IgE syndrome
The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues.
Investigations
- Quantitative detection of serum antibodies
-direct smear microscopy
-xRay
-CT scan
-skin culture
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis
The diagnosis may be STAT 3 hyper IgE syndrome.
Autosomal dominant
Characterized by elevation of
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Shruti Chauhan
Roll no.79
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3.X-ray
4.CT-Scan
5.quantitative detection of
Serum antibodies
DIAGNOSIS
STAT-3 hyper igE syndrome, characterized by eczema, recurrent lung infection, eosinophilia , recurrent staphylococcal skin abscess and high serum level of IgE.
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Mayank-44
Harsh Tiwari
ReplyDeleteRoll No 32
INVESTIGATIONS
*skin culture
*direct smear microscopy
*CT scan
*quantitative detection of serum antibodies
*X-ray
DIAGNOSIS
STAT -3 hyper IgE syndrome
It is a rare primary immunodeficiency disease characterized by eczema, recurrent staylococcal skin abscess, recurrent lung infection, eosinophilia and high serum level of IgE.
Investigations-
ReplyDelete.skin culture
.direct smear microscopy
.CT scan
.quantitative detection of serum antibodies
. x-ray
Diagnosis-
Stat-3 hyper igE syndrome
It is rare primary immunodeficiency disease characterized by eczema, recurrent staylococcal skin abscess, recurrent lung infection, eosinophilia and high serum level of igE
Anand kumar
Roll n. 07
Investigation are:
ReplyDeleteSkin culture
Smear microscopy
X-ray
CT scan
Diagnosis : job's syndrome
(Elevated Igm levels)
Clinical manifestation : staphylococcal skin abscesses, recurrent lung infections ( pneumatocele), eosinophilia, eczema
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Name-Mohd Maaz
Roll no-49
Investigation:
ReplyDelete1-skin culture
2-direct smear microscopy
3-xray
4-CTscan
5-quantitative detection of serum antibodies
Diagnosis:
The diagnosis may be STAT 3 hyper -IgE syndrome.
Characterised by elevated IgE in serum.
Clinical manifestations:
Recurrent respiratory tract infection, recurrent ski. Infection, eosinophilia..
Investigations
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Mohd Shuaib.
Roll no 52
Aryaman singh
ReplyDeleteRoll no 18
Investigations-
1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
ReplyDeleteSAMRIDDHi GUPTA
ROLL NO. 71
Investigations-
1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Investigations
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in
serum.
Clinical manifestations-- Recurrent respiratory tract infection
Recurrent skin infection Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Investigation are:
ReplyDeleteSkin culture
Smear microscopy
X-ray
CT scan
Diagnosis : job's syndrome
(Elevated Igm levels)
Clinical manifestation : staphylococcal skin abscesses, recurrent lung infections ( pneumatocele), eosinophilia, eczema
ANUBHAV AGRAHARI
ROLL-NO15
Name - preeti
ReplyDeleteRoll no-61
Investigation-
Skin cultural
Smear microscopy
X-ray
CT scan
Detection of serum antibody
Diagnosis-
Mutation in STAT3 or DOCK8 gene . Phagocytosis disorder
Called job's syndrome (hyper-ig-E syndrome) also called Buckley syndrome.
STAT 3 require for gene regulation,T cell maturation
Specially Th 17 , when mutation in the STAT-3 protein causes skeletal and teeth abnormalities,eosinophilia lung infection (pneumatocele) in left side, eczema staphylococal skin abscesses
This all happen due to immunodeficiency.
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Diksha(24)
Investigations-
ReplyDelete1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis--
The diagnosis may be STAT3 hyper-IgE syndrome. It is inherited inan autosomal dominant manner. It is characterized by elevated IgE in serum.
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.
There are non immune features also include delayed shedding of primary teeth and eruption of permanent teeth as seen in patient.
Investigations: skin culture
ReplyDeleteX-ray
CT scan
Direct smear microscopy
Diagnosis: STAT 3 HYPER - IgE syndrome. Primary immnodeficiency syndrome.
The diagnosis of STAT3 IgE is established in proband with clinical findings and heterozygous dominant negative pathogenic variant in STAT 3 by molecular genetic testing.
Anu Priya Rollno.14
DeleteShreya
ReplyDelete77
Investigations
1 skin culture
2 x ray
3 ct scan
4 direct smear microscopy
Diagnosis
The diagnosis may be STAT 3 hyper IgE syndrome.
Autosomal dominant
Characterized by elevation of IgE
Clinical manifestation
respiratory tract infection
recurrent skin infection
Pneumatoceles and bronchiectasis result from aberrant healing of pneumonias
Non immune features include delayed shedding of primary teeth and eruption of permanent teeth in patient
Sakshi
ReplyDeleteRoll no.68
Probable diagnosis- STAT 3 hyper IgE syndrome. It is a autosomal dominant disorder with elevated IgE level.
Investigations- 1. Skin culture
2. X ray
3. CT scan
4. Direct smear microscopy
5. Quantitative detection of serum antibodies.
Clinical features include
1. Recurrent infections of respiratory system
2 . Recurrent skin infections
3. Delayed shedding of primary teeth
4. Delayed eruption of permanent teeth
Amit Maddheshiya
ReplyDeleteRoll no. 06
Investigations
1 skin culture
2 x ray
3 ct scan
4 direct smear microscopyDiagnosis : job's syndrome
(Elevated Igm levels)
Clinical manifestation : staphylococcal skin abscesses, recurrent lung infections ( pneumatocele), eosinophilia.
SHAILENDRA KUMAR MADDESHIYA
ReplyDeleteROLL NO .. 75
Investigations-
1.skin culture
2.direct smear microscopy
3. Xray
4.CT scan
5. quantitative detection of serum antibodies
Diagnosis
The diagnosis may be STAT 3 hyper IgE syndrome.
Autosomal dominant
Characterized by elevation of
Clinical manifestations--
Recurrent respiratory tract infection
Recurrent skin infection
Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias.