Background and Aims

Papillon–Lefèvre syndrome (PLS) is an infrequent autosomal recessive inherited disorder characterized by palmoplantar hyperkeratosis, frequent cutaneous and systemic pyogenic infections, susceptibility to bacterial infections, intracranial calcifications, and mental retardation and destructive periodontitis beginning in childhood, premature loss of permanent teeth, caused by mutations in cathepsin C (CTSC) gene.

Here, we described six cases with Papillon-Lefevre Syndrome.

Methods

Genetic analysis revealed mutations in cathepsin C (CTSC) gene the patients.

Results

Patient 1: A 13-year-old female patient referred with liver abscess who was admitted abdominal pain and fever. She has had recurrent skin abscess, palmoplantar hyperkeratosis. Her 22-year-old sister had destructive periodontitis and she had palmoplantar hyperkeratosis.

Patient 2: A 10-year-old female patient had onychomycosis on feed nails that referred from dentist followed destructive periodontitis. Her 9-year-old brother had palmoplantar hyperkeratosis, premature loss and severe inflamation of teeth.

Patient 3: A 12-year-old female patient referred with recurrent nasal polyposis that was treated to asthma. She had palmoplantar hyperkeratosis in her examination and her sister also had hyperkeratosis.

Conclusions

Generally, these patients were referred to dentistry for dental complaints, but when they were ascertained about their history that was observed recurrent and resistant infections. Consequently like these our cases, patients with severe periodontitis should also be evaluated with immunological parameters.

Background and Aims

Mutations of recombination activating gene (RAG) 1/2 in humans are associated with a distinct and broad clinical phenotypes reach from severe combined immunodeficiency (SCID) to Omenn syndrome or a combined immunodeficiency with autoimmunity. To define clinical heterogeneity of RAG2 G35A mutation, in families of different origin.

Methods

A next-generation sequencing of 200 genes associated with primary immunodeficiency identified RAG2 G35A mutation.

Results

We present three patients with RAG2 G35A mutation in two distinct families. Two years old male of Arab origin with homozygous mutation was diagnosed as T-B-NK+ SCID. His male sibling with heterozygous mutation was diagnosed as a leaky SCID and they are doing well with regular IVIG therapy. The third patient with a leaky SCID phenotype was Turkish and died because of severe hemophagocytic syndrome.

Conclusions

Clinical heterogeneity of these three patients and also their parents with the same RAG mutation was striking. Clinical heterogeneity of any specific mutation of RAG2 should be related to the environmental factors.

Background and Aims

NFKB2 mutation defined as common variable immunodeficiency type 10. Our aim is to draw attention to NFKB2 mutation could be a combined immunodeficiency.

Methods

A next-generation sequencing of 200 genes associated with primary immunodeficiency identified a heterozygous mutation NFKB2.

Results

The patient is 13-year-old female who presented cough, recurrent infections at 6-year-old. In her medical history, she had recurrent respiratory tract infections and failure to thrive since 1-year-old, her all nails were atrophic and breaking since 3-year-old. Her hairs were totally loss, and she had psoriasiform eruptions, possibly due to severe autoimmunity. Hypoglycemia was detected when the patient was admitted with seizures, at the age of 10-year-old. Endocrinological evaluation revealed a central hypothyroidism. Her mother died due to T cell lymphoma. She had recurrent respiratory tract infections and bronchiectasis in her history.

Conclusions

This case and her mother suggest that NFKB2 mutations should be accepted as combined immunodeficiency.

Background and Aims

Hemophagocytic syndrome (HPS) is described by an increase in macrophages accountable for extensive phagocytosis of hematopoietic cells. Secondary HPS arises commonly in the presence of infections, neoplasia, autoimmune disorders and immune disorders.

Here we present 2 cases with IKBKB and RAG2 deficiency that were developed hemophagocytic syndrome.

Methods

Next-generation sequencing of 200 genes associated with primary immunodeficiency identified homozygous mutations IKBKB and RAG2.

Results

Case 1. An 8-mounth-old male patient had followed with primary immune deficiency. He was referred to our department with fever not responding to antibiotic treatment for 10 days and hepatosplenomegaly. We found IKBKB homozygous mutation. His father, mother and his brother have also heterozygous IKBKB mutation.

Case 2. A 12-year-old male patient presented hepatomegaly, fever with unresponsive to antibiotic treatment and elevated liver enzymes. The patient was admitted three times with HPS attack. A leaky SCID was diagnosed with RAG2 homozygous mutation.

Conclusions

We reported here hemophagocytic syndrome with IKBKB and RAG2 mutations the first time.

In our cases, we think that HFS developed due to environmental factors with primary immunodeficiency.