Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in AIRE and heterozygous pathogenic variants in FAM111B, respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.
Through informed consent and enrollment onto IRB-approved protocols (NCT01386437, NCT03206099) the patient underwent a comprehensive clinical evaluation at the NIH Clinical Center alongside exome sequencing, copy number variation analysis, autoantibody surveys, peripheral blood immunophenotyping, and salivary cytokine analyses.
We report the presentation and evaluation of a 9-year-old boy who was referred to the NIH Clinical Center with an APECED-like clinical phenotype that included the classic APECED dyad of CMC and hypoparathyroidism. He was found to meet clinical diagnostic criteria for POIKTMP featuring poikiloderma, tendon contractures, myopathy, and pneumonitis, and exome sequencing revealed a de novo c.1292T>C heterozygous pathogenic variant in FAM111B but no deleterious single nucleotide variants or copy number variants in AIRE.
This report expands upon the available genetic, clinical, autoantibody, immunological, and treatment response information on POIKTMP.

Severe Combined Immunodeficiency (SCID) involves the lymphocyte lineage and mimics Human Immunodeficiency Virus (HIV) disease common in our region, making it difficult to diagnose and manage effectively. SCID in East Africa stands underdiagnosed because of lack of awareness and diagnostic resources. A case series of three SCID patients admitted to a Tertiary Paediatric Centre in Kenya between 2016 and 2019. The clinical presentations, laboratory findings, management and outcome for each were studied. Three cases were diagnosed between the ages of 4 to 15 months. Two of them were male and one was a female. All had a history of previous sibling death. There was no parental consanguinity. All presented with pneumonia. One of them had vaccine acquired Rotavirus infection and a persistent generalised maculopapular rash. The T, B cell profile was T- B- in two and T- B+ in one case and the immunoglobulins were reduced in all. All the cases were fatal. Thus, Primary immunodeficiency disorders are prevalent in East Africa. A proper clinical history, examination and laboratory tests like a haemogram, peripheral blood film can aid to suspect and diagnose SCID even with limited resources.

Kawasaki disease (KD) has features that appear supporting an infectious cause with a secondary deranged inflammatory/autoimmune response. The association of KD in adults with human immunodeficiency virus infection and the presence of KD in patients with immunodeficiency disorders support the infectious theory. We present four KD patients associated with immunodeficiencies: one with X-linked agammaglobulinemia, one with HIV infection, and two with leukemia; one of these patients also had Down syndrome. We did a literature search to find out all reported cases of immunodeficiency with KD in children. In immunodeficiency disorders, the inability of the immune system to eradicate the pathogens coupled to an exaggerated inflammatory response, especially in chronic granulomatous disease, may lead to the development of KD. The study of patients with immunodeficiencies complicated with KD may shed light into the etiopathogenesis of the disease.

Common Variable Immunodeficiency (CVID) is one of the most common causes of Primary Immunodeficiency Disorders (PIDs) and of Primary Hypogammaglobulinemia in adulthood. Clinical features include variable combinations of infectious diseases, autoimmune diseases, lymphoproliferative disorders and gastrointestinal diseases. In this case report, delayed detection of the disease had a negative prognostic impact, despite prompt antibiotic and replacement therapy. The unfavourable prognosis was due to multi-organ failure (namely lungs, heart and liver) and to a number of chronic and acute infectious diseases.