Clinical features

All congenital syndromes are rare and diagnosis of the specific defect difficult. Few haematological/immunological labs are set up to perform the required range of tests. Specialist referral for diagnosis and treatment is indicated and may be able to alter the otherwise grim prognosis in many of these conditions.

Lazy leucocyte syndrome: Leucocyte adhesion deficiency due to 5 HMW membrane glycoproteins. Rare. Autosomal recessive. 4 Recurrent infections often in oral cavity, delayed wound healing. Lab features: 4 neutrophil count, normal BM, abnormal chemotaxis on Rebuck skin window test. The condition is relatively mild. Treatment is of specific infections with the need for prophylaxis in some patients.

Hyperimmunoglobulin E syndrome: Also known as Job's syndrome (ffl Old Testament) because of recurrent staphylococcal abscesses. Autosomal recessive inheritance, associated with atopic dermatitis and other autoimmune phenomena. Bacterial/fungal infection, chronic dermatitis. Lab features: 4 IgE, 4 eosinophils.

Complement deficiency: Autosomal recessive inheritance of C3 deficiency, homozygotes have severe recurrent bacterial infection, particularly encapsulated organisms.

Chronic granulomatous disease (CGD): Though rare, commonest life-threatening inherited neutrophil functional defect. More than one disorder. Most are sex linked and boys affected 7x more frequently than girls, but 3 autosomal mutations recognised. Presents in early life but also in adults; carriers asymptomatic. Multiple skin and visceral abscesses, systemic infection (pneumonia, osteitis etc.)—bacterial/fungal, lymphadenopathy, hepatosplenomegaly. Lab features: nitro blue tetrazolium (NBT) test (an index of defective respiratory burst) +ve. Specific mutational analysis now possible for earlier and prenatal diagnosis. Outlook better than it used to be. Improved by aggressive antibiotic policy and IFN-g. BMT little used due to improving outlook with conservative/prophylactic treatment. Early results poor. Prospect of gene ^gj therapy attractive but awaits development.

Chediak-Higashi syndrome: Rare autosomal recessive disorder. Multiple defects. Partial oculocutaneous albinism, recurrent infection, lymphadeno-pathy, peripheral neuropathy and cerebellar ataxia. A fatal accelerated phase occurs in ~85%, usually in the second decade, with lymphocytic infiltration of liver/spleen/nodes/BM, pancytopenia.

Lab findings

• 5 Hb, 5 neutrophil count, 5 platelet count.

• Characteristic giant greenish grey refractile granules in neutrophils (also lymph inclusions).

• Treatment is supportive. High dose ascorbic acid may help some patients. Anecdotal reports of successful BMT.

Myeloperoxidase deficiency:

Autosomal recessive. Commonest of neutrophil dysfunction conditions (1:2000) but also least serious. Often asymptomatic. Manifest in diabetics with recurrent infections—commonly Candida albicans. Good prognosis.

Lab findings

• 4 neutrophil/monocyte peroxidase on histochemical analysis.

• Automated cell counters using MPO activity to count neutrophils may show spurious neutropenia.

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