[CIS PIDD] [cis-pidd] Cernunnos and growth hormone treatment

[Klaus Warnatz]

Dear all, 

I wish you a happy new Year.
Together with Dr. van de Ven we saw a patient with the diagnosis of Cernunnos deficiency and were asked by the endocrinologists whether anything rules out growth hormone treatment. please see below his history. The patient is currently 24 years old, 146cm tall and weighs 36kg. He suffers from his small height. While we are waiting for the evaluation by the endocrinologists, whether a growth hormone therapy might be a possible treatment (evaluation of current bone formation, IGF and HGH serum levels pending), and are currently evaluating his malabsorption as a potentially underlying additional risk factor for poor growth, we would appreciate your advice, whether anyone has experience with growth hormone treatment in Cernunnos patients and whether there is any rationale to expect an increased risk of secondary malignancy under this treatment.

thank you very much

Klaus

Detailed patient history:
The patient is of consanguineous, Turkish descent, born December 1990 after normal pregnancy. In the first months of life, a microcephaly, failure to thrive and recurrent bronchitis were noticed. At 6 months of age, hypogammaglobulinemia was diagnosed and intravenous immunoglobulin substitution initiated. At age one, he developed a Coombs-positive autoimmune hemolytic anemia. Childhood was characterized by recurrent bronchitis and pneumonia, including Pneumocystic carinii pneumonia in 1997. A small stature and dysmorphic facies became apparent. At age 10, the patient developed a thrombocytopenia and leukopenia. Bone marrow biopsies were performed and mutations in CD40L, Btk and AID gene ruled out. Nijmegen-breakage syndrome (normal Chromosome stability after bleomycin induction, normal chromosome 8q21) and Fanconi anemia (normal cell cyclus after PHA stimulation) were excluded. Bone marrow showed mild bone marrow insufficiency and a monoclonal proliferation, most likely T cells. Cotrimoxazole prophylaxis was added.
In 2004 (age 13), an anterior pituitary stimulation and IGf-1 generation test were performed. Growth hormone therapy was initiated in May 2004 (0.5mg/day, increased up to 0,8mg/day) and showed a clear response (Knemometry rate 0.16 to 1.5mm/week). Exact duration of this treatment is not known, approximately 6-9 months. Unfortunately, the patient developed severe knee (growing) pains afterwards.
In 2005, the diagnosis of Cernunnos deficiency was made; since then, use of X-rays was limited due radiation sensitivity. Generalized lymphadenopathy was observed, a supraclavicular lymph node resolved spontaneously. B cells were completely absent in the peripheral blood by 2005. Additionally, he developed a malabsorption syndrome due to a chronic lamblia infection. Eradication therapies included duodenal Ig and bovine colostrum application. Giardia lamblia eventually disappeared, but the chronic diarrhea remained. Stool PCR was repetitively positive for norovirus. A colonoscopy in 2012 showed a chronic colitis with inflammatory infiltrates and cryptitis without pathogens presented, possibly autoimmune enteropathy. Pulmonary function slowly deteriorated due to recurrent infections and tobacco use, leading to severe obstructive and restrictive pulmonary disease, so that HSCT was felt to be no option anymore when we saw him.. Cardiac status is unimpaired.
Of note, the patient’s younger sister (2002) had a more severe form of Cernunnos deficiency and received a stem cell transplantation. One brother and 3 other sisters are healthy.


Prof. Dr. med. Klaus Warnatz

UNIVERSITÄTSKLINIKUM FREIBURG
University Medical Center Freiburg
Center for Chronic Immunodeficiency
Division of Rheumatology and Clinical Immunology

Tel: +49-761-270-77640 / FAX -71000 / Pager: 12-7100

Breisacher Str. 117, 79106 Freiburg, Germany
klaus.warnatz at uniklinik-freiburg.de
http://www.uniklinik-freiburg.de/cci


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