Archives ofDisease in Childhood: short reports 231

Growth hormone deficiency and combined Arch Dis Child: first published as 10.1136/adc.68.2.231 on 1 February 1993. Downloaded from

Mimi L K Tang, Andrew S Kemp

Abstract of his knee. Serum immunoglobulin concentra- The first description of an association of tions showed absent IgG, normal IgA, IgM, and isolated growth hormone deficiency (IGHD) IgE (table). He was treated with intravenous and combined immunodeficiency is presented. antibiotics and gammaglobulin, and was con- The findings suggest that IGHD should be tinued on monthly immunoglobulin infusions considered as a cause of short stature in with antibiotics during periods of productive children with combined immunodeficiency cough. Immune function tests at 11 months before attributing growth retardation to infec- revealed a combined defect of humoral and tion. cellular immunity (table). He was admitted to hospital at 4 years of age (Arch Dis Child 1993;68:231-2) having had a persistent cough for 18 months with deterioration over the preceding eight There have been several reports of isolated weeks despite regular oral antibiotics. He had growth hormone deficiency (IGHD) associated not suffered from recurrent otitis media, muco- with X linked agammaglobulinaemia. 1-3 In cutaneous candida, or chronic diarrhoea. Exam- these cases cellular immune function, as mea- ination of his chest revealed bilateral basal sured by mitogenic responses and crackles, and a chest radiograph demonstrated numbers, has been normal. We describe a bilateral basal consolidation with right middle patient with a combined defect in humoral and lobe and left lingular collapse. Bronchoscopy cellular immunity associated with IGHD whose and bronchial aspirate failed to identify a immune defect was inherited in an X linked causative organism. A lymphopenia and a recessive pattern. neutropenia were noted for the first time. Mitogenic responses and T cell numbers had deteriorated (table). He improved slowly over Case report five weeks with intensive physiotherapy, inhaled

A boy was born at full term to unrelated salbutamol, and intravenous antibiotics. Sub- http://adc.bmj.com/ parents. Recurrent respiratory tract infections sequent management has included prophylactic with cough and purulent nasal discharge, epi- antibiotics and monthly gammaglobulin infu- sodes of conjunctivitis, pustular lesions on his sions. He continues to have an intermittent fingers and toes, and candida napkin dermatitis unproductive cough and has developed mild commenced at 6 months of age. At 8 months, a persistent oral thrush. seborrhoeic scalp rash was noted. At 9 months, The patient's height and weight at 10 months

he developed aHaemophilus influenzae B arthritis ofage were on the 10th centile. At 2 years of age on October 2, 2021 by guest. Protected copyright.

Immune function tests (normal range for age in parentheses) Age (months) 9 11 51 60 63 White cells (x109/1) 28-0 12-7 1 0 9-2 10 2 Lymphocytes (x10/l) 2-0 2-0 0 7 0 9 1 0 Immunoglobulins (g/l) IgG 0-5 (2-4-11-3) 22-7 (2-4-12-0) 10-2 (4 8-17 7) 7-7 (48-17-7) 8-4 (4-8-17 7) IgM 0-4 (0 3-1-3) 0 3 (03-1-5) 0-1 (0-3-1 5) 0-4 (0 3-1 5) 0-4 (0-3-1-5) IgA 0-2 (0-1-0-9) <0 1 (0 1-1H1) 0 4 (03-2 1) <0 1 (0-3-2-1) 0 1 (03-2-1) Isoagglutinin titres* Department of Anti-A - 2 - - 0 , Anti-B 0 - 0 Royal Children's Hospital, Lymphocyte subsets (x 109/1) CD3 _ 0-85 (2-7-8-5) 0-09 (2 0-5-3) 0 07 (1 1-3 5) 0-19 (1-1-3-5) Victoria, CD4 _ 0-49 (1-7-5-7) 0-07 (0-7-2-0) 0-07 (0 7-2-0) 0-08 (0-7-2-0) Australia CD8 _ 0 12 (06-2-7) 0-03 (0-5-1-4) 0-04 (0-5-1 4) 0-05 (0-5-1-4) Mimi L K Tang CD19 - 1 18 (0 7-3 4) 0 58 (0-5-1-5) 0-79 (0-5-15) 0-94 (0-5-1-5) Andrew S Kemp Correspondence to: Mitogen responses (%)t Dr Mimi Tang, Whole blood: Department of Immunology, Phytohaemagglutinin - 31 17 25 19 Royal Children's Hospital, Separated cells: Flemi