Background and Aims

The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott - Aldrich syndrome protein (WASP) gene.

Objective: To describe epidemiological, clinical and laboratory data of children with WAS syndrome who were managed in pediatric hospitals Mustapha Pacha in Algeria.during the period 2015- 2019.

Methods

This study included children admitted with the diagnosis of WAS.

Results

10 patients were diagnosed as WAS in 5 years. The ages at diagnosis ranged from 12 weeks to 18 months. The classic triad of thrombocytopenia with small platelets, recurrent infectious, and eczema was seen in only 4 patients; 2 had only infectious manifestations and 4 had only hematologic manifestations before diagnosis.

Immunological studies in all patients have revealed increase of IgA in 9. Mutations in the WASP gene were seen in 5 children,

Four patients had at least one autoimmune or inflammatory complication. Autoimmune hemolytic anemia (2 cases), inflammatory bowel disease (3 cases) and cerebral vasculitis in one case.

Prophylaxis antimicrobial therapy was used in all patients and 8 patients received IVIG replacement therapy. Two children underwent hematopoietic stem cell transplantation (HSCT) and 2 gene therapy. Two patients died from failure to thrive and cerebral candidiasis.

Conclusions

Diagnosis of Wiskott Aldrich syndrome should be considered in any male infant who presents with early onset thrombocytopenia, eczema, and recurrent infections. Treatment is mostly restricted to antibiotics, IVIG therapy. Current advances in HSCT and gene therapy provide treatments with highly favorable results.

Background and Aims

The Wiskott–Aldrich syndrome (WAS) is a complex primary immunodeficiency disorder that is characterized by recurrent infections, thrombocytopenia, eczema, and autoimmunity and caused by mutations in WAS.

Methods

We describe the rare occurrence of Wiskott-Aldrich syndrome (WAS) in identical twin brothers disease is described

Results

Case report:

Monozygotic twin boys were born at 36 weeks of gestation following an uncomplicated delivery. After birth, evidence of thrombocytopenia was noted in both twins. Secondary to a concern for the possibility of neonatal alloimmune thrombocytopenia (NAIT), they were treated with intravenous immunoglobulin; however, follow-up demonstrated recurrent thrombocytopenia.WAS gene sequencing was completed which demonstrated deletion c482 del C.

A discordant phenotype has evolved in which one twin demonstrates asymptomatic thrombocytopenia, moderate infectious complications and the other symptomatic thrombocytopenia, severe infectious complications ( gastroenteritis, severe allergy)

Disease course deteriorated when the twin boys reached the age of 20 months. Considering the absence of an HLA identical relative and unrelated donor, the twins were referred to Institute san raffaele hospital Milan ( ITALY) where they are treated with gene therapy (GT).

At a follow-up of 20 months post-GT, the patienst are well, with normal peripheral blood counts,

Conclusions

Conclusion

Diagnosis of Wiskott Aldrich syndrome should be considered in any male infant who presents with early onset thrombocytopenia, eczema, and recurrent infections. The only curative therapy consists of hematopoietic stem cell transplantation (HSCT). HSC gene therapy has emerged as an innovative therapeutic strategy for various primary immunodeficiency disorders. WAS is a promising candidate disease for gene-therapy approaches.

Background and Aims

The aim of this study was to estimate the disease burden of PIDs in a department of general pediatrics in Algiers and to appreciate the trends.

Methods

A retrospective single center study conducted in the department of pediatrics at Mustapha Bacha teaching hospital in Algiers. All cases of PIDs seen in our department between January 1st 2003 and June 30th 2019 were enrolled. PIDs were classified according to the International Union of Immunological Societies expert committee for Primary Immunodeficiency.

Results

70 PIDs patients were identified with 40 boys. Mean age at diagnosis was 40 months. Parental consanguinity was found in 38% of cases. Main clinical manifestations were recurrent respiratory infections (55%), growth failure (45%), prolonged fever (40%), chronic diarrhea (32%) and eczema (25%). The represented categories were combined T and B cell immunodeficiency (34%), well define syndromes with immunodeficincy (23%), predominantly antibody deficiencies (21%), congenital defects of phagocyte (8.5%), diseases of immune dysregulation (7%) and autoinflammatory diseases (6%). Among combined ID category, SCID was the most common condition (24%) followed by CMH II deficiency (8.5%). The global mortality of our series was 27 % at a mean age of 31 months.

Conclusions

Children with recurrent infections, growth failure and chronic diarrhea should raise high index of suspicion on possible PID. In the absence of routine screening, physician awareness of the relative frequency of these disorders is critical to early diagnosis and treatment.

Background and Aims

Chediak-Higashi syndrome (SCH) is a rare autosomal recessive genetic disorder characterized by oculo-cutaneous albinism, immunodeficiency responsible for recurrent infections, and late neurological deterioration. The pathognomonic sign is the presence of giant intracytoplasmic granules in most of the cells of the organism. In 85% of cases, CHS patients develop the accelerated phase characterized by an Hemophagocytic Lymphohistiocytosis syndrome responsible for a high mortality rate.

Methods

They are four children followed in the pediatric department of the CHU Mustapha of Algiers for Chediak-Higashi syndrome between 2014 and 2017.

Results

These are 3 boys and 1 girl with an average age of diagnosis of 3.2 years. Consanguinity is found in all cases as well as a family form (2 brothers). Clinically, oculocutaneous albinism is present in 3 children and melanoderma with a highly pigmented iris in 1 case. Silver gray hair is present in all patient.

The peripheral blood smear allowed to make the diagnosis by showing the intra-cytoplasmic giant granulations in all the patients. Microscopic study of the hair found deposits of melanin in irregular clods in the hair shaft in favor of Chediak-Higashi syndrome. All patients with signs of lymphohistiocytic activation were put on HLH 2004 protocol. One child received an allogeneic marrow transplant but died six months later. The remaining three patients are still alive and clinically stable.

Conclusions

Chediak-Higashi syndrome is a rare disease, the diagnosis is suspected in a child with oculocutaneous albinism with recurrent infections. The only current effective treatment of haematological and immunological abnormalities remains allogeneic bone marrow transplantation.

Background and Aims

ARPC1B deficiency results in defective Arp2/3 actin filament branching and is associated with heterogeneous systemic disease. Here, we present the first case of ARPC1B deficiency in Algeria.

Methods

Data was collected from the patient's file during hospitalization in our pediatrics department. To elucidate the genetic etiology, whole exome sequencing has been conducted.

Results

We reported 10-year-old boy from the Northwest of Algeria who was born as second child of consanguineous parents and admitted for a severe, refractory inflammatory bowel disease. The patient presented with early onset chronic diarrhea at the age of 2 months, failure to thrive, and recurrent invasive infections such as pneumonia and otitis media. Physical examination at admission revealed superficial vasculitis in both lower limbs .

Laboratory work up showed thrombocytopenia and signs of combined immune dysregulation, including elevated IgA level, T cell lymphopenia, and reduced numbers of naïve T cells. Colonoscopy depicted a severe colitis reminiscent of UC.
A genetic screen revealed a homozygous mutation of the ARPC1B gene . Clinical management included treatment with corticosteroids and prophylactic antibiotics for this particular immune deficiency were initiated, along with a dedicated follow-up .this patient repsonded to treatment

Conclusions

Our study undescored that ARPC1B deficiency should be considered among the panel of primary immunodeficiencies in young patients with very early onset inflammatory bowel disease .