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1.

Lymphoproliferative syndrome 1, X-linked

X-linked lymphoproliferative disease (XLP) is caused by mutations in SH2D1A and XIAP (BIRC4). XLP may also occur in rare instances with no identified underlying genetic cause. The three most commonly recognized phenotypes of SH2D1A-related XLP are hemophagocytic lymphohistiocytosis (HLH) associated with Epstein-Barr virus (EBV) infection (58% of individuals), dysgammaglobulinemia (31%), and lymphoproliferative disorders (malignant lymphoma) (30%). Manifestations of SH2D1A-related XLP, including HLH, can also occur in the absence of EBV. XIAP-related XLP also presents with HLH (often associated with EBV) or dysgammaglobulinemia, but no cases of lymphoma have been described to date. HLH resulting from EBV infection, sometimes referred to as severe infectious mononucleosis, is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Fulminant hepatitis, hepatic necrosis, and profound bone marrow failure are typical, resulting in mortality that is higher than 90%, though prompt recognition of the disorder and aggressive treatment interventions likely improve survival. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The prognosis is improved if affected males are managed with regular intravenous immunoglobulin (IVIG) therapy. The malignant lymphomas are typically high-grade B cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine. [from GeneReviews]

MedGen UID:
358381
Concept ID:
C1868674
Disease or Syndrome
2.

X-Linked Lymphoproliferative Syndrome

An X-linked immunodeficiency syndrome that exclusivesly affects males, although females can be carriers. The syndrome is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders. [from NCI]

MedGen UID:
107498
Concept ID:
C0549463
Disease or Syndrome; Neoplastic Process
3.

Hypogammaglobulinemia

Decreased concentration of the gamma fraction of serum globulin [from SNOMED CT]

MedGen UID:
88568
Concept ID:
C0086438
Disease or Syndrome
4.

Hypogammaglobulinemia, X-linked

MedGen UID:
69145
Concept ID:
C0241932
Disease or Syndrome
5.

Lymphoma

Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as . -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
6.

Agammaglobulinemia

Absence of the gamma fraction of serum globulin [from SNOMED CT]

MedGen UID:
168
Concept ID:
C0001768
Disease or Syndrome
7.

Infections

MedGen UID:
833099
Concept ID:
CN228891
Finding
8.

Hodgkin lymphoma

Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. [from ORDO]

MedGen UID:
799611
Concept ID:
CN206988
Disease or Syndrome
9.

Agammaglobulinemia

Absence or extremely low level of generally all classes of gamma-globulin in the blood. [from HPO]

MedGen UID:
505639
Concept ID:
CN003927
Finding
10.

Lymphoma

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [from HPO]

MedGen UID:
505322
Concept ID:
CN002422
Finding
11.

Decreased antibody level in blood

An abnormally decreased level of immunoglobulin in blood. [from HPO]

MedGen UID:
428063
Concept ID:
CN003814
Finding
12.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
13.

Recurrent infections

Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. [from HPO]

MedGen UID:
65998
Concept ID:
C0239998
Finding
14.

X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin therapy. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics. [from GeneReviews]

MedGen UID:
65123
Concept ID:
C0221026
Disease or Syndrome
15.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
16.

Lymphadenopathy

Enlargment (swelling) of a lymph node. [from HPO]

MedGen UID:
96929
Concept ID:
C0497156
Finding
17.

Intellectual disability, profound

Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [from HPO]

MedGen UID:
43816
Concept ID:
C0020796
Finding; Mental or Behavioral Dysfunction
18.

Mental disorder

Mental disorders include a wide range of problems, including. -Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias. -Bipolar disorder. -Depression. -Mood disorders. -Personality disorders. -Psychotic disorders, including schizophrenia. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders. .  [from MedlinePlus]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
19.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
20.

Lymphatic Diseases

The lymphatic system is a network of tissues and organs. It is made up of. -Lymph - a fluid that contains white blood cells that defend against germs. -Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. -Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.  [from MedlinePlus]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
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