Background and Aims

Autoimmune LymphoProliferative Syndrome (ALPS) is a rare autosomal dominant disorder characterized by inability to regulate lymphocyte homeostasis, resulting from a defect in lymphocyte apoptosis (programmed cell death).

Defective Apoptosis may be due to any component in the Fas/FasL pathway including: Fas, Fas Ligand, and Caspase enzymes like caspase 10 and others.

Our aim is to present a case of ALPS, which underline the importance of the molecular diagnosis in Primary Immune Deficiency Patients.

Methods

15 Year old boy with clinical diagnosis of Common variable immunodeficiency (CVID). With the following previous histories:

- Immune thrombocytopenic purpura (ITP) s/p rituximab 3 years ago.

- Crohn’s disease (CD). Diagnosed by Endoscopy and pathology report.

- Short stature. with No signs of Puberty

Acutely presented to our ER with history of increased diarrhea and shortness of breath.

Upon presentation patient was short, Pale, dehydrated and hypotensive with tachycardic and hypoxic, BMI: 10 kg/m2. His sexual staging was Tanner stage 1

CMV PCR was positive of 1,584.

Patient was started on ganciclovir. No CMV retinitis.

Colonoscopy: tiny ulcers in the distal rectum.

Intestinal Biopsies: SEVERE ACTIVE ULCERATIVE CYTOMEGALOVIRUS (CMV) PROCTITIS.

Results

Immunology workup: IgA level is low (<0.50), IgM level low (<0.25) also IgG trough level was low <3

Molecular Report: mutation in the gene encoding the Caspase 8 enzyme, which means he is a case of ALPS.

Conclusions

ALPS is a very rare disease can easily be confused with CVID , with recent advances in molecular genetics diagnosis, treatment options and prognosis improving for such patients.