Background and Aims

Gain of Function(GOF) of STAT1 is a recent cause of PID with autosomal dominant inheritance pattern (AD). This genetic defect is accompanied by autoimmune disorders (37%), complications associated with infections (11-21%), vasculopathies (6%) and malignancy (6%). Fungal infections has a penetrance of 90% in the first decade and is usually the first sign of the disease. We presente the case of a STAT 1 GOF defect with an atypical presentation.

Methods

54 year old female with positive family history of CMC. She was initially diagnosed with diabetes mellitus (DM) 1 at 13 years. at age 20, repetitive nonivasive fungal infections (GI tract, ungueal). Candida spp. was isolated and esophageal stenosis was noted. Due to familiy history of CMC with AD pattern, sequenciation was done, confirming the diagnosis. During followup, she developed seronegative arthritis and cylindrical bronchiectases. Currently the patient is on prophylactic antifungal agents with good response and has yearly visitations to gastroenterology and dermatology where active search for skin and mucosal neoplasia is performed.

Results

We present this case due to its unusual presentation and its associated complications. Our female debuts with autoimmunity (DM1), presenting after its debut with late onset CMC. She continues to present unusual associations; esophageal stenosis at diagnosis and finally seronegative arthritis and cylindrical bronchiectases on both lower lobes at follow-up. No malignancy has been detected so far.

Conclusions

In STAT 1 GOF, it is important to detect associated complications since these associations have a tremendous impact on the prognosis of this cohort.

Background and Aims

Introduction: Common Variable Immunodeficiency (CVID) is a heterogene group of disorders encompassed under a single term presented as autoimmunity, granulomatous disease, recurrent infections, and malignancy.

Objective: to present two cases of papillary thyroid carcinoma in adult with CVID.

Methods

Clinical cases:

Patient 1: Female 28 years, diagnosis of CVID in childhood, Freiburg IB phenotype, history of granulomatous disease and recurrent infections. At age 23 diagnosis of papillary thyroid carcinoma, total thyroidectomy and reactive iodine administration.

Patient 2: Female 38 years, diagnosis of CVID at 25 years, Freiburg IB phenotype, history of ITP, enteropathy associated with CVID, bronchiectasis and pulmonary fibrosis. At 37 years diagnosis of papillary thyroid carcinoma, treatment with total thyroidectomy and administration of radioactive iodine.

Results

Discussion: prevalence of malignancy in CVID is 1.5.20.7%; occurs between 4^th-6th decades of life; in these patients one of them differs.

The most frequent type of malignancy are non-Hodgkin's B-cell lymphomas, followed by gastric, bladder, breast and cervical epithelial tumors. Sporadic cases of papillary thyroid carcinoma have been reported, as in the López-Rocha cohort study in Mexico and in a study conducted by Sánchez in 2017 in the USA.

Of the risk factors found: female sex, high levels of IgM and ITP; In our cases, both female patients, only one with ITP, both IB group according to the Freiburg classification, none with high IgM levels.

Conclusions

Conclusions: it is important identify potential risk factors for malignancy in patients with CVID, since they have an increase of 5-12 times the risk than in the general population.

Background and Aims

INTRODUCTION

Common variable immunodeficiency (CVID) has a high incidence of gastrointestinal manifestations and an increased risk of malignancy. From 2 to 10% of patients with CVID develop malignant lymphoid type, usually non-Hodgking B-cell lymphomas. They frequently involve extranodal sites, which includes the gastrointestinal tract.

Methods

CLINICAL CASE

A 33-year-old (y/o) male patient.

Evolution:

14 y/o: autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura.

20 y/o: 2 abscesses one malar and axillary. Severe pneumonia, so protocol is performed for primary immunodeficiency and concludes CVID.

30 y/o: intermittent diarrhea, steatorrhea with foamy stools.

Colonoscopy: chronic inflammation with lymphoid hyperplasia.

Celiac disease is diagnosed, gluten-free and dairy-free diet begins, with symptom improvement.

33 y/o: Hematochezia and diarrhea.

Colonoscopy and endoscopic capsule: non-Hodgkin's lymphoma of B cells in ileum by biopsy.

Treatment with chemotherapy is started. 6 months later due to complications of chemotherapy, he presents massive hemorrhage of the lower digestive tract and dies.

Results

DISCUSION

The manifestations of gastrointestinal malignancy in patients with CVID are the 2nd cause of death, so patients should be suspected and evaluated routinely when presenting symptoms, since celiac disease or the syndrome of irritable bowel can progress to malignancy. Patients with CVID may also develop gastrointestinal nodular lymphoid hyperplasia, leading to misdiagnosis of indolent gastrointestinal lymphoid malignancies.

Conclusions

CONCLUSION

The monitoring of patients is recommended endoscopies every 24 months in patients with normal histology, every 12 months in patients with gastritis atrophy or intestinal metaplasia and every 6 months with dysplasia.